Source: https://stanfordhealthcare.org/doctors/e/gregory-enns.html
Timestamp: 2019-04-26 05:47:01+00:00

Document:
Enns, G. M., Barkovich, A. J., Rosenblatt, D. S., Fredrick, D. R., Weisiger, K., Ohnstad, C., & Packman, S. (1999). Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin. JOURNAL OF INHERITED METABOLIC DISEASE, 22(5), 599–607.
Enns, G. M., Martinez, D. R., Kuzmin, A. I., Koch, R., Wakeem, C. K., Woo, S. L. C., … Packman, S. (1999). Molecular correlations in phenylketonuria: Mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population. PEDIATRIC RESEARCH, 46(5), 594–602.
Enns, G. M., Bennett, M. J., Hoppel, C. L., Goodman, S. I., Weisiger, K., Ohnstad, C., … Packman, S. (2000). Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. JOURNAL OF PEDIATRICS, 136(2), 251–254.
Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry Westphal, V., Enns, G. M., McCracken, M. F., & Freeze, H. H. (2001). Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. MOLECULAR GENETICS AND METABOLISM, 73(1), 71–76.
Clinical course and biochemistry of sialuria Enns, G. M., Seppala, R., Musci, T. J., Weisiger, K., Ferrell, L. D., Wenger, D. A., … Packman, S. (2001). Clinical course and biochemistry of sialuria. JOURNAL OF INHERITED METABOLIC DISEASE, 24(3), 328–336.
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme A dehydrogenase and mitochondrial trifunctional protein deficiencies Hintz, S. R., Matern, D., Strauss, A., Bennett, M. J., Hoyme, H. E., Schelley, S., … Enns, G. M. (2002). Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme A dehydrogenase and mitochondrial trifunctional protein deficiencies. MOLECULAR GENETICS AND METABOLISM, 75(2), 120–127.
The adolescent with an inborn error of metabolism: medical issues and transition to adulthood. Enns, G. M., & Packman, W. (2002). The adolescent with an inborn error of metabolism: medical issues and transition to adulthood. Adolescent Medicine (Philadelphia, Pa.), 13(2), 315-?
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins Enns, G. M., Steiner, R. D., Buist, N., Cowan, C., Leppig, K. A., McCracken, M. F., … Hudgins, L. (2002). Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. JOURNAL OF PEDIATRICS, 141(5), 695–700.
Methotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion Adam, M. P., Manning, M. A., Beck, A. E., Kwan, A., Enns, G. M., Clericuzio, C., & Hoyme, H. E. (2003). Methotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 123A(1), 72–78.
The contribution of mitochondria to common disorders Enns, G. M. (2003). The contribution of mitochondria to common disorders. MOLECULAR GENETICS AND METABOLISM, 80(1-2), 11–26.
Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum Manning, M. A., Cassidy, S. B., Clericuzio, C., Cherry, A. M., Schwartz, S., Hudgins, L., … Hoyme, H. E. (2004). Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum. PEDIATRICS, 114(2), 451–457.
Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency Enns, G. M., Barkovich, A. J., van Kuilenburg, A. B. P., Manning, M., Sanger, T., Witt, D. R., & Van Gennip, A. H. (2004). Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency. JOURNAL OF INHERITED METABOLIC DISEASE, 27(4), 513–522.
Mild developmental delay in terminal chromosome 6p deletion Chen, K. M., Cherry, A. M., Hahn, J. S., & Enns, G. M. (2004). Mild developmental delay in terminal chromosome 6p deletion. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 129A(2), 201–205.
Postpartum "psychosis" in mild argininosuccinate synthetase deficiency Enns, G. M., O'Brien, W. E., Kobayashi, K., Shinzawa, H., & Pellegrino, J. E. (2005). Postpartum "psychosis" in mild argininosuccinate synthetase deficiency. OBSTETRICS AND GYNECOLOGY, 105(5), 1244–1246.
Management of methylmalonic acidaemia by combined liver-kidney transplantation Nagarajan, S., Enns, G. M., Millan, M. T., Winter, S., & Sarwal, M. M. (2005). Management of methylmalonic acidaemia by combined liver-kidney transplantation. JOURNAL OF INHERITED METABOLIC DISEASE, 28(4), 517–524.
Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle Enns, G. M., Hoppel, C. L., DeArmond, S. J., Schelley, S., Bass, N., Weisiger, K., … Packman, S. (2005). Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle. CLINICAL GENETICS, 68(4), 337–348.
Glutaryl-CoA dehydrogenase deficiency and newborn screening: Retrospective analysis of a low excretor provides further evidence that some cases may be missed Gallagher, R. C., Cowan, T. M., Goodman, S. I., & Enns, G. A. (2005). Glutaryl-CoA dehydrogenase deficiency and newborn screening: Retrospective analysis of a low excretor provides further evidence that some cases may be missed. MOLECULAR GENETICS AND METABOLISM, 86(3), 417–420.
Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load Enns, G. M., Bai, R.-K., Beck, A. E., & Wong, L.-J. (2006). Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load. MOLECULAR GENETICS AND METABOLISM, 88(4), 364–371.
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. Abdul-Rahman, O. A., La, T. H., Kwan, A., Schlaubitz, S., Barsh, G. S., Enns, G. M., & Hudgins, L. (2006). Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. American Journal of Medical Genetics. Part A, 140(14), 1567–1572.
Systemic hyalinosis: A distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2) Shieh, J. T. C., Swidler, P., Martignetti, J. A., Ramirez, M. C. M., Balboni, I., Kaplan, J., … Hoyme, H. E. (2006). Systemic hyalinosis: A distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2). PEDIATRICS, 118(5), E1485–E1492.
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders Enns, G. M., Berry, S. A., Berry, G. T., Rhead, W. J., Brusilow, S. W., & Hamosh, A. (2007). Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. NEW ENGLAND JOURNAL OF MEDICINE, 356(22), 2282–2292.
Central nervous system therapy for lysosomal storage disorders Enns, G. M., & Huhn, S. L. (2008). Central nervous system therapy for lysosomal storage disorders. NEUROSURGICAL FOCUS, 24(3-4).
Cell-based therapies for metabolic liver disease Enns, G. M., & Millan, M. T. (2008). Cell-based therapies for metabolic liver disease. MOLECULAR GENETICS AND METABOLISM, 95(1-2), 3–10.
Neurologic Damage and Neurocognitive Dysfunction in Urea Cycle Disorders Enns, G. M. (2008). Neurologic Damage and Neurocognitive Dysfunction in Urea Cycle Disorders. SEMINARS IN PEDIATRIC NEUROLOGY, 15(3), 132–139.
Clinical and Molecular Heterogeneity in Patients with the CblD Inborn Error of Cobalamin Metabolism Miousse, I. R., Watkins, D., Coelho, D., Rupar, T., Crombez, E. A., Vilain, E., … Rosenblatt, D. S. (2009). Clinical and Molecular Heterogeneity in Patients with the CblD Inborn Error of Cobalamin Metabolism. JOURNAL OF PEDIATRICS, 154(4), 551–56.
Successful pregnancy and cesarean delivery via noninvasive ventilation in mitochondrial myopathy Yuan, N., El-Sayed, Y. Y., Ruoss, S. J., Riley, E., Enns, G. M., & Robinson, T. E. (2009). Successful pregnancy and cesarean delivery via noninvasive ventilation in mitochondrial myopathy. JOURNAL OF PERINATOLOGY, 29(2), 166–167.
Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia Atkuri, K. R., Cowan, T. M., Kwan, T., Ng, A., Herzenberg, L. A., Herzenberg, L. A., & Enns, G. M. (2009). Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 106(10), 3941–3945.
Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity Gramatges, M. M., Dvorak, C. C., Regula, D. P., Enns, G. M., Weinberg, K., & Agarwal, R. (2009). Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity. BONE MARROW TRANSPLANTATION, 44(7), 449–450.
A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy Mobley, B. C., Enns, G. M., Wong, L.-J., & Vogel, H. (2009). A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. CLINICAL NEUROPATHOLOGY, 28(2), 143–149.
Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes Scharfe, C., Lu, H. H.-S., Neuenburg, J. K., Allen, E. A., Li, G.-C., Klopstock, T., … Davis, R. W. (2009). Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes. PLOS COMPUTATIONAL BIOLOGY, 5(4).
Novel Deoxyguanosine Kinase Gene Mutations and Viral Infection Predispose Apparently Healthy Children to Fulminant Liver Failure Shieh, J. T. C., Berquist, W. E., Zhang, Q., Chou, P.-C., Wong, L.-J. C., & Enns, G. M. (2009). Novel Deoxyguanosine Kinase Gene Mutations and Viral Infection Predispose Apparently Healthy Children to Fulminant Liver Failure. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION, 49(1), 130–132.
Hypoplastic Glomerulocystic Kidney Disease and Hepatoblastoma A Potential Association not Caused by Mutations in Hepatocyte Nuclear Factor 1 beta Abdul-Rahman, O. A., Edghill, E. L., Kwan, A., Enns, G. M., & Hattersley, A. T. (2009). Hypoplastic Glomerulocystic Kidney Disease and Hepatoblastoma A Potential Association not Caused by Mutations in Hepatocyte Nuclear Factor 1 beta. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 31(7), 527–529.
Long-term outcome following pediatric liver transplantation for metabolic disorders Stevenson, T., Millan, M. T., Wayman, K., Berquist, W. E., Sarwal, M., Johnston, E. E., … Enns, G. M. (2010). Long-term outcome following pediatric liver transplantation for metabolic disorders. PEDIATRIC TRANSPLANTATION, 14(2), 268–275.
Nitrogen sparing therapy revisited 2009 Enns, G. M. (2010). Nitrogen sparing therapy revisited 2009. Presented at the 3rd International Satellite on Urea Cycle Disorders, LA JOLLA,CA: ACADEMIC PRESS INC ELSEVIER SCIENCE.
Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence Enns, G. M., Koch, R., Brumm, V., Blakely, E., Suter, R., & Jurecki, E. (2010). Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence. MOLECULAR GENETICS AND METABOLISM, 101(2-3), 99–109.
High-quality DNA sequence capture of 524 disease candidate genes Shen, P., Wang, W., Krishnakumar, S., Palm, C., Chi, A.-K., Enns, G. M., … Scharfe, C. (2011). High-quality DNA sequence capture of 524 disease candidate genes. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 108(16), 6549–54.
Length of prenatal exposure to selective serotonin reuptake inhibitor (SSRI) antidepressants: effects on neonatal adaptation and psychomotor development Casper, R. C., Gilles, A. A., Fleisher, B. E., Baran, J., Enns, G., & Lazzeroni, L. C. (2011). Length of prenatal exposure to selective serotonin reuptake inhibitor (SSRI) antidepressants: effects on neonatal adaptation and psychomotor development. PSYCHOPHARMACOLOGY, 217(2), 211–19.
Leigh syndrome caused by a novel m.4296G > A mutation in mitochondrial tRNA isoleucine Cox, R., Platt, J., Chen, L. C., Tang, S., Wong, L.-J., & Enns, G. M. (2012). Leigh syndrome caused by a novel m.4296G > A mutation in mitochondrial tRNA isoleucine. MITOCHONDRION, 12(2), 258–261.
Initial experience in the treatment of inherited mitochondrial disease with EPI-743 Enns, G. M., Kinsman, S. L., Perlman, S. L., Spicer, K. M., Abdenur, J. E., Cohen, B. H., … Miller, G. (2012). Initial experience in the treatment of inherited mitochondrial disease with EPI-743. MOLECULAR GENETICS AND METABOLISM, 105(1), 91–102.
Propionic acidemia: To liver transplant or not to liver transplant? Chapman, K. A., Summar, M. L., & Enns, G. M. (2012). Propionic acidemia: To liver transplant or not to liver transplant? PEDIATRIC TRANSPLANTATION, 16(3), 209–210.
Atypical Amyoplasia Congenita in an Infant With Leigh Syndrome: A Mitochondrial Cause of Severe Contractures? Wilnai, Y., Seaver, L. H., & Enns, G. M. (2012). Atypical Amyoplasia Congenita in an Infant With Leigh Syndrome: A Mitochondrial Cause of Severe Contractures? AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 158A(9), 2353–57.
Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease Blankenberg, F. G., Kinsman, S. L., Cohen, B. H., Goris, M. L., Spicer, K. M., Perlman, S. L., … Enns, G. M. (2012). Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease. MOLECULAR GENETICS AND METABOLISM, 107(4), 690–99.
Liver transplantation for urea cycle disorders in pediatric patients: A single-center experience Kim, I. K., Niemi, A.-K., Krueger, C., Bonham, C. A., Concepcion, W., Cowan, T. M., … Esquivel, C. O. (2013). Liver transplantation for urea cycle disorders in pediatric patients: A single-center experience. PEDIATRIC TRANSPLANTATION, 17(2), 158–167.
A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood. Moore, T., Le, A., Niemi, A.-K., Kwan, T., Cusmano-Ozog, K., Enns, G. M., & Cowan, T. M. (2013). A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood. Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences, 929, 51–55.
Cobalamin C disease identified by expanded newborn screening: The California experience. Cusmano-Ozog, K., Lorey, F., LEVINE, S., Martin, M., Nicholas, E., Packman, S., … Enns, G. M. (2007). Cobalamin C disease identified by expanded newborn screening: The California experience. MOLECULAR GENETICS AND METABOLISM, 90(3), 240–240.
Early identification and aggressive treatment of cobalamin C disease. Cusmano-Ozog, K., Martin, M., Nicholas, E., Packman, S., Rosenblatt, D. S., Cowan, T. M., & Enns, G. M. (2007). Early identification and aggressive treatment of cobalamin C disease. MOLECULAR GENETICS AND METABOLISM, 90(3), 249–250.
Cobalamin c disease and expanded newborn screening: The California experience. Cusmano-Ozog, K., Lorey, F., LEVINE, S., Martin, M., Nicholas, E., Packman, S., … Enns, G. M. (2007). Cobalamin c disease and expanded newborn screening: The California experience. JOURNAL OF INVESTIGATIVE MEDICINE, 55(1), S90–S90.
Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., … Lee, B. H. (2012). Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 90(2), 282–89.
Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders Cui, H., Li, F., Chen, D., Wang, G., Truong, C. K., Enns, G. M., … Wong, L.-J. C. (2013). Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders. GENETICS IN MEDICINE, 15(5), 388–94.
Severe liver disease in urea cycle disorders. Traynor, J. D., Tuchman, M., Manning, M. A., Goodman, S. I., & Enns, G. M. (2003). Severe liver disease in urea cycle disorders. Presented at the Western Regional Meeting of the American-Federation-for-Medical-Research, CARMEL,CA,CA: LIPPINCOTT WILLIAMS & WILKINS.
Two cases of transient 5-oxoprolinuria resolving with antioxidant therapy. Huguenin, S. M., Gallagher, R. C., Lyons, M. J., Kwan, T., Enns, G. M., & Cowan, T. M. (2005). Two cases of transient 5-oxoprolinuria resolving with antioxidant therapy. MOLECULAR GENETICS AND METABOLISM, 84(3), 223–224.
Bilateral cystic lung disease in a monoamnionic twin of an anencephalic: A case of glial heterotopia in the lungs. Anderson, J. M., Adams, M. L., Morgan, T., Robinson, T., Enns, G. M., Keller, K. A., … Hintz, S. R. (2003). Bilateral cystic lung disease in a monoamnionic twin of an anencephalic: A case of glial heterotopia in the lungs. Presented at the Western Regional Meeting of the American-Federation-for-Medical-Research, CARMEL,CA,CA: LIPPINCOTT WILLIAMS & WILKINS.
Inborn error of metabolism presenting as malformation syndrome: Hydrocephalus as a manifestation of cobalamin D disease Bernstein, J. A., Lee-Messer, C., Cusmano, K., Rosenblatt, D. S., Cowan, T., & Enns, G. M. (2008). Inborn error of metabolism presenting as malformation syndrome: Hydrocephalus as a manifestation of cobalamin D disease. JOURNAL OF INVESTIGATIVE MEDICINE, 56(1), 196–96.
Initial Human Experience with SBC-102, a Recombinant Enzyme Replacement Therapy in Adults with Lysosomal Acid Lipase Deficiency Enns, G., Balwani, M., Deegan, P., Malinova, V. R., Honzik, H. T., Sharma, R., … Quinn, A. (2012). Initial Human Experience with SBC-102, a Recombinant Enzyme Replacement Therapy in Adults with Lysosomal Acid Lipase Deficiency. MOLECULAR GENETICS AND METABOLISM, 105(2), S29–S29.
Enzyme Replacement with Recombinant Human Lysosomal Acid Lipase (rhLAL) in Patients with Cholesteryl Ester Storage Disease, the Late Onset Form of LAL Deficiency, Produces Sustained Decreases in Transaminases and Reduction in Liver Fat Content Jones, S., Enns, G. M., Balwani, M., Breen, C., Sharma, R., Deegan, P., … Quinn, A. G. (2012). Enzyme Replacement with Recombinant Human Lysosomal Acid Lipase (rhLAL) in Patients with Cholesteryl Ester Storage Disease, the Late Onset Form of LAL Deficiency, Produces Sustained Decreases in Transaminases and Reduction in Liver Fat Content. Presented at the 63rd Annual Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD), BOSTON,MA: WILEY-BLACKWELL.
RECOMBINANT HUMAN LYSOSOMAL ACID LIPASE (LAL) DEMONSTRATES PHARMACODYNAMIC ACTIVITY IN CHOLESTERYL ESTER STORAGE DISEASE (CESD), THE LATE ONSET FORM OF LAL DEFICIENCY Jones, S., Enns, G., Balwani, M., Breen, C., Sharma, R., Deegan, P., … Quinn, A. G. (2012). RECOMBINANT HUMAN LYSOSOMAL ACID LIPASE (LAL) DEMONSTRATES PHARMACODYNAMIC ACTIVITY IN CHOLESTERYL ESTER STORAGE DISEASE (CESD), THE LATE ONSET FORM OF LAL DEFICIENCY. SPRINGER.
Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: A retrospective study of 60 patients and literature review Enns, G. M., Cox, V. A., Goldstein, R. B., Gibbs, D. L., Harrison, M. R., & Golabi, M. (1998). Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: A retrospective study of 60 patients and literature review. AMERICAN JOURNAL OF MEDICAL GENETICS, 79(3), 215–225.
Severe congenital anomalies requiring transplantation in children with Kabuki syndrome Ewart-Toland, A., Enns, G. M., Cox, V. A., Mohan, G. C., Rosenthal, P., & Golabi, M. (1998). Severe congenital anomalies requiring transplantation in children with Kabuki syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS, 80(4), 362–367.
alpha-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging Shrader, W. D., Amagata, A., Barnes, A., Enns, G. M., Hinman, A., Jankowski, O., … Miller, G. (2011). alpha-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging. BIOORGANIC & MEDICINAL CHEMISTRY LETTERS, 21(12), 3693–98.
Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load Wong, L. J. C., Perng, C. L., Hsu, C. H., Bai, R. K., Schelley, S., Vladutiu, G. D., … Enns, G. M. (2003). Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load. JOURNAL OF MEDICAL GENETICS, 40(11).
Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype? Enns, G. M., Roeder, E., Chan, R. T., Catts, Z. A. K., Cox, V. A., & Golabi, M. (1999). Apparent cyclophosphamide (cytoxan) embryopathy: A distinct phenotype? AMERICAN JOURNAL OF MEDICAL GENETICS, 86(3), 237–241.
Congenital disorder of glycosylation Ic in patients of Indian origin Newell, J. W., Seo, N. S., Enns, G. M., McCraken, M., Mantovani, J. F., & Freeze, H. H. (2003). Congenital disorder of glycosylation Ic in patients of Indian origin. MOLECULAR GENETICS AND METABOLISM, 79(3), 221–228.
Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function van Kuilenburg, A. B. P., Meinsma, R., Beke, E., Bobba, B., Boffi, P., Enns, G. M., … Dobritzsch, D. (2005). Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function. BIOLOGICAL CHEMISTRY, 386(4), 319–324.
Natural history of propionic acidemia Pena, L., Franks, J., Chapman, K. A., Gropman, A., Mew, N. A., Chakrapani, A., … Summar, M. L. (2012). Natural history of propionic acidemia. MOLECULAR GENETICS AND METABOLISM, 105(1), 5–9.
Natural history of branchio-oto-renal (BOR) syndrome. Hudgins, L., Jones, M. C., Olney, R. S., Enns, G. M., & Schelley, S. L. (2000). Natural history of branchio-oto-renal (BOR) syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 67(4), 56–56.
Baseline characteristics of PKU patients enrolled in the PKUDOS registry Burton, B. K., Longo, N., Arnold, G. L., Enns, G. M., Andersson, H. C., Mofidi, S., … White, D. (2011). Baseline characteristics of PKU patients enrolled in the PKUDOS registry. MOLECULAR GENETICS AND METABOLISM, 102(3), 273–273.
Long term safety and clinical activity of SBC-102, a recombinant human lysosomal acid lipase (rhLAL), in patients with late onset LAL deficiency Balwani, M., Malinova, V., Sharma, R., Valayannopoulos, V., Stock, E. O., Boyadjiev, S. A., … Quinn, A. G. (2013). Long term safety and clinical activity of SBC-102, a recombinant human lysosomal acid lipase (rhLAL), in patients with late onset LAL deficiency. MOLECULAR GENETICS AND METABOLISM, 108(2), S22–S23.
Redefining a case of Jarcho-Levin syndrome as Oculo-Auriculo-Vertebral Spectrum. Cheng, S. F., Enns, G. M., Golabi, M., Blumberg, B., & Kostiner, D. R. (2001). Redefining a case of Jarcho-Levin syndrome as Oculo-Auriculo-Vertebral Spectrum. AMERICAN JOURNAL OF HUMAN GENETICS, 69(4), 300–300.
ARTHROGRYPOSIS, RENAL DYSFUNCTION AND CHOLESTASIS (ARC) SYNDROME: A NEW PATIENT CASE REPORT Brennan, M., SLATTERY, L., Esplin, E., Enns, G. M., Hudgins, L., & Manning, M. (2013). ARTHROGRYPOSIS, RENAL DYSFUNCTION AND CHOLESTASIS (ARC) SYNDROME: A NEW PATIENT CASE REPORT. JOURNAL OF INVESTIGATIVE MEDICINE, 61(1), 188–88.
Post-partum "psychosis" in mild argininosuccinate synthetase deficiency. Enns, G. M., O'Brien, W. E., Kobayashi, K., Shinzawa, H., Hart, K., Gao, H. Z., … Saheki, T. (2002). Post-partum "psychosis" in mild argininosuccinate synthetase deficiency. AMERICAN JOURNAL OF HUMAN GENETICS, 71(4), 425–425.
Pediatric Liver Transplantation as Definitive Therapy for Urea Cycle Disorders Kim, I. K., Niemi, A.-K., Krueger, C., Enns, G., & Esquivel, C. O. (2013). Pediatric Liver Transplantation as Definitive Therapy for Urea Cycle Disorders. Presented at the 13th Annual State of the Art Winter Symposium of the American-Society-of-Transplant-Surgeons (ASTS) Held in Conjunction with the NATCO Symposium for Advanced Transplant Professionals, MIAMI,FL,FL,FL,FL,FL: WILEY-BLACKWELL.
EVIDENCE OF REDOX IMBALANCE IN A PATIENT WITH METHYLMALONIC ACIDEMIA (mut0) Cusmano-Ozog, K., Moore, T., Niemi, A.-K., Zadeh, N., Cowan, T. M., & Enns, G. M. (2010). EVIDENCE OF REDOX IMBALANCE IN A PATIENT WITH METHYLMALONIC ACIDEMIA (mut0). MOLECULAR GENETICS AND METABOLISM, 99(3), 210–211.
Pediatric Liver Transplantation as Definitive Therapy for Urea Cycle Disorders Kim, I., Niemi, A.-K., Enns, G., & Esquivel, C. (2012). Pediatric Liver Transplantation as Definitive Therapy for Urea Cycle Disorders. Presented at the 24th Annual Meeting of the European-Association-for-Cardiothoracic-Surgery, GENEVA,SWITZERLAND: WILEY-BLACKWELL.
Improved redox status after liver transplantation in a patient with MMA mut(0) subtype; functional evidence for EPI-743 therapy Niemi, A.-K., Niemi, A.-K., Moore, T., Cowan, T., Kheifets, V., & Enns, G. M. (2012). Improved redox status after liver transplantation in a patient with MMA mut(0) subtype; functional evidence for EPI-743 therapy. MITOCHONDRION, 12(5), 557–57.
Long-term follow-up of a patient with early onset CBLG disease Niemi, A. K., Cusmano-Ozog, K., Rosenblatt, D. S., & Enns, G. M. (2011). Long-term follow-up of a patient with early onset CBLG disease. MOLECULAR GENETICS AND METABOLISM, 102(3), 306–307.
Low glutathione levels in a patient with succinic semialdehyde dehydrogenase (SSADH) deficiency Niemi, A.-K., Brown, C., Moore, T., Enns, G. M., & Cowan, T. M. (2012). Low glutathione levels in a patient with succinic semialdehyde dehydrogenase (SSADH) deficiency. MOLECULAR GENETICS AND METABOLISM, 105(3), 345–45.
MITOCHONDRIAL PATHOLOGY IN ANGELMAN SYNDROME Niemi, A., Cox, R., Scharfe, C., Cherry, A., & Enns, G. (2011). MITOCHONDRIAL PATHOLOGY IN ANGELMAN SYNDROME. JOURNAL OF INVESTIGATIVE MEDICINE, 59(1), 165–166.
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome Currier, S. C., Lee, C. K., Chang, B. S., Bodell, A. L., Pai, G. S., Job, L., … Walsh, C. A. (2005). Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 133A(1), 53–57.
Glutathione: A redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies Pastore, A., Petrillo, S., Tozzi, G., Carrozzo, R., Martinelli, D., Dionisi-Vici, C., … Piemonte, F. (2013). Glutathione: A redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies. MOLECULAR GENETICS AND METABOLISM, 109(2), 208–214.
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene Chanprasert, S., Wang, J., Weng, S.-W., Enns, G. M., Boue, D. R., Wong, B. L., … Wong, L.-J. C. (2013). Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. MOLECULAR GENETICS AND METABOLISM, 110(1-2), 153–61.
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of alpha-Dystroglycan Stevens, E., Carss, K. J., Cirak, S., Foley, R., Torelli, S., Willer, T., … Muntoni, F. (2013). Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of alpha-Dystroglycan. AMERICAN JOURNAL OF HUMAN GENETICS, 92(3), 354–365.
A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability Seaver, L. H., He, X.-Y., Abe, K., Cowan, T., Enns, G. M., Sweetman, L., … Yang, S.-Y. (2011). A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability. PLOS ONE, 6(11).
Clinical Effect and Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease Balwani, M., Breen, C., Enns, G. M., Deegan, P. B., Honzik, T., Jones, S., … Quinn, A. G. (2013). Clinical Effect and Safety Profile of Recombinant Human Lysosomal Acid Lipase in Patients With Cholesteryl Ester Storage Disease. HEPATOLOGY, 58(3), 950–957.
Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., & Saneto, R. (2013). Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management. MITOCHONDRION, 13(6), 681–687.
Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges. Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., & Saneto, R. (2014). Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges. Mitochondrion, 14(1), 26–33.
Clinical whole-exome sequencing: are we there yet? Atwal, P. S., Brennan, M.-L., Cox, R., Niaki, M., Platt, J., Homeyer, M., … Hudgins, L. (2014). Clinical whole-exome sequencing: are we there yet? Genetics in Medicine , 16(9), 717–19.
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Enns, G. M., Shashi, V., Bainbridge, M., Gambello, M. J., Zahir, F. R., Bast, T., … Goldstein, D. B. (2014). Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genetics in Medicine , 16(10), 751–758.
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening Arnold, G. L., Salazar, D., Neidich, J. A., Suwannarat, P., Graham, B. H., Lichter-Konecki, U., … Dezsofi, A. (2012). Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. MOLECULAR GENETICS AND METABOLISM, 106(4), 439–441.
Degree of Glutathione Deficiency and Redox Imbalance Depend on Subtype of Mitochondrial Disease and Clinical Status Enns, G. M., Moore, T., Le, A., Atkuri, K., Shah, M. K., Cusmano-Ozog, K., … Cowan, T. M. (2014). Degree of Glutathione Deficiency and Redox Imbalance Depend on Subtype of Mitochondrial Disease and Clinical Status. PLOS ONE, 9(6).
Clinical interpretation and implications of whole-genome sequencing. Dewey, F. E., Grove, M. E., Pan, C., Goldstein, B. A., Bernstein, J. A., Chaib, H., … Quertermous, T. (2014). Clinical interpretation and implications of whole-genome sequencing. JAMA : the Journal of the American Medical Association, 311(10), 1035–45.
Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status. Enns, G. M., Moore, T., Le, A., Atkuri, K., Shah, M. K., Cusmano-Ozog, K., … Cowan, T. M. (2014). Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status. PloS One, 9(6).
Clinical whole-exome sequencing: are we there yet? Atwal, P. S., Brennan, M.-L., Cox, R., Niaki, M., Platt, J., Homeyer, M., … Hudgins, L. (2014). Clinical whole-exome sequencing: are we there yet? GENETICS IN MEDICINE, 16(9), 717–19.
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway Enns, G. M., Shashi, V., Bainbridge, M., Gambello, M. J., Zahir, F. R., Bast, T., … Goldstein, D. B. (2014). Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. GENETICS IN MEDICINE, 16(10), 751–758.
Abnormal Hepatocellular Mitochondria in Methylmalonic Acidemia Wilnai, Y., Enns, G. M., Niemi, A.-K., Higgins, J., & Vogel, H. (2014). Abnormal Hepatocellular Mitochondria in Methylmalonic Acidemia. ULTRASTRUCTURAL PATHOLOGY, 38(5), 309–14.
Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency Valayannopoulos, V., Malinova, V., Honzik, T., Balwani, M., Breen, C., Deegan, P. B., … Quinn, A. G. (2014). Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. JOURNAL OF HEPATOLOGY, 61(5), 1135–1142.
Clinical Report-Health Supervision for Children With Fragile X Syndrome Hersh, J. H., Saul, R. A., Saal, H. M., Braddock, S. R., Enns, G. M., Gruen, J. R., … Spire, P. (2011). Clinical Report-Health Supervision for Children With Fragile X Syndrome. PEDIATRICS, 127(5), 994–1006.
Dopa-responsive dystonia presenting as delayed and awkward gait Cheyette, B. N. R., Cheyette, S. N. R., Cusmano-Ozog, K., & Enns, G. M. (2008). Dopa-responsive dystonia presenting as delayed and awkward gait. PEDIATRIC NEUROLOGY, 38(4), 273–275.
Future treatment strategies in phenylketonuria van Spronsen, F. J., & Enns, G. M. (2010). Future treatment strategies in phenylketonuria. MOLECULAR GENETICS AND METABOLISM, 99, S90–S95.
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase Dimmock, D. P., Zhang, Q., Dionisi-Vici, C., Carrozzo, R., Shieh, J., Tang, L. Y., … Wong, L.-J. (2008). Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. HUMAN MUTATION, 29(2), 330–331.
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia Manoli, I., Sysol, J. R., Li, L., Houillier, P., Garone, C., Wang, C., … Venditti, C. P. (2013). Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 110(33), 13552–13557.
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism Camp, K. M., Lloyd-Puryear, M. A., Yao, L., Groft, S. C., Parisi, M. A., Mulberg, A., … Coates, P. M. (2013). Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism. MOLECULAR GENETICS AND METABOLISM, 109(4), 319–328.
Treatment of Mitochondrial Disorders: Antioxidants and Beyond Enns, G. M. (2014). Treatment of Mitochondrial Disorders: Antioxidants and Beyond. JOURNAL OF CHILD NEUROLOGY, 29(9), 1235–1240.
Points to Consider in the Clinical Use of NGS Panels for Mitochondrial Disease: An Analysis of Gene Inclusion and Consent Forms Platt, J., Cox, R., & Enns, G. M. (2014). Points to Consider in the Clinical Use of NGS Panels for Mitochondrial Disease: An Analysis of Gene Inclusion and Consent Forms. JOURNAL OF GENETIC COUNSELING, 23(4), 594–603.
ClinGen - The Clinical Genome Resource Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., … Watson, M. S. (2015). ClinGen - The Clinical Genome Resource. NEW ENGLAND JOURNAL OF MEDICINE, 372(23), 2235–42.
Maternal phenylketonuria Saal, H. M., Braddock, S. R., Bull, M. J., Enns, G., Gruen, J. R., Mendelsohn, N. J., & Saul, R. A. (2008). Maternal phenylketonuria. PEDIATRICS, 122(2), 445–449.
Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation. Niemi, A.-K., Kim, I. K., Krueger, C. E., Cowan, T. M., Baugh, N., Farrell, R., … Enns, G. M. (2015). Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation. Journal of Pediatrics, 166(6), 1455–61 e1.
Long-term safety and efficacy of sapropterin: The PKUDOS registry experience Longo, N., Arnold, G. L., Pridjian, G., Enns, G. M., Ficicioglu, C., Parker, S., & Cohen-Pfeffer, J. L. (2015). Long-term safety and efficacy of sapropterin: The PKUDOS registry experience. MOLECULAR GENETICS AND METABOLISM, 114(4), 557–563.
Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism Soler-Alfonso, C., Enns, G. M., Koenig, M. K., Saavedra, H., Bonfante-Mejia, E., & Northrup, H. (2015). Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism. PEDIATRIC NEUROLOGY, 52(3), 361–65.
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Chanprasert, S., Wang, J., Weng, S.-W., Enns, G. M., Boué, D. R., Wong, B. L., … Wong, L.-J. C. (2013). Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Molecular Genetics and Metabolism, 110(1-2), 153–161.
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. He, P., Grotzke, J. E., Ng, B. G., Gunel, M., Jafar-Nejad, H., Cresswell, P., … Freeze, H. H. (2015). A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. Glycobiology, 25(8), 836–844.
Health supervision for children with neurofibromatosis Schaefer, G. B., Bull, M. J., Enns, G. M., Gruen, J. R., Hersh, J. H., Mendelsohn, N. J., & Saal, H. M. (2008). Health supervision for children with neurofibromatosis. PEDIATRICS, 121(3), 633–642.
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency Burton, B. K., Balwani, M., Feillet, F., Baric, I., Burrow, T. A., Camarena Grande, C., … Quinn, A. G. (2015). A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. NEW ENGLAND JOURNAL OF MEDICINE, 373(11), 1010–20.
Introduction to the newborn screening fact sheets Kaye, C. I., Schaefer, G. B., Bull, M. J., Enns, G. M., Gruen, J. R., Hersh, J. H., … Watson, M. (2006). Introduction to the newborn screening fact sheets. PEDIATRICS, 118(3), 1304–1312.
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Parikh, S., Goldstein, A., Koenig, M. K., Scaglia, F., Enns, G. M., Saneto, R., … DiMauro, S. (2015). Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genetics in Medicine , 17(9), 689–701.
Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia. Splinter, K., Niemi, A.-K., Cox, R., Platt, J., Shah, M., Enns, G. M., … Bernstein, J. A. (2016). Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia. Journal of Genetic Counseling, 25(5), 936–944.
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder Ananth, A. L., Robichaux-Viehoever, A., Kim, Y.-M., Hanson-Kahn, A., Cox, R., Enns, G. M., … Bernstein, J. A. (2016). Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder. PEDIATRIC NEUROLOGY, 59, 81–84.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures Petrovski, S., Kury, S., Myers, C. T., Anyane-Yeboa, K., Cogne, B., Bialer, M., … Goldstein, D. B. (2016). Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. AMERICAN JOURNAL OF HUMAN GENETICS, 98(5), 1001–1010.
Clinical Features of Lysosomal Acid Lipase Deficiency. Burton, B. K., Deegan, P. B., Enns, G. M., Guardamagna, O., Horslen, S., Hovingh, G. K., … Quinn, A. G. (2015). Clinical Features of Lysosomal Acid Lipase Deficiency. Journal of Pediatric Gastroenterology and Nutrition, 61(6), 619–625.
Reply. Niemi, A.-K., & Enns, G. M. (2015). Reply. Journal of Pediatrics, 167(5), 1173–1174.
Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period. Blumenfeld, Y. J., Davis, A. S., Hintz, S. R., Milan, K., Messner, A. H., Barth, R. A., … Manning, M. (2016). Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period. Journal of Ultrasound in Medicine , 35(6), 1353–58.
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine. Gomez-Ospina, N., Scott, A. I., Oh, G. J., Potter, D., Goel, V. V., Destino, L., … Cowan, T. M. (2016). Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine. Journal of Inherited Metabolic Disease, 39(6), 821–29.
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms Weiss, K., Terhal, P. A., Cohen, L., Bruccoleri, M., Irving, M., Martinez, A. F., … Muenke, M. (2016). De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. AMERICAN JOURNAL OF HUMAN GENETICS, 99(4), 934–941.
Line intensities and temperature-dependent line broadening coefficients of Q-branch transitions in the v(2) band of ammonia near 10.4 mu m Sur, R., Spearrin, R. M., Peng, W. Y., Strand, C. L., Jeffries, J. B., Enns, G. M., & Hanson, R. K. (2016). Line intensities and temperature-dependent line broadening coefficients of Q-branch transitions in the v(2) band of ammonia near 10.4 mu m. JOURNAL OF QUANTITATIVE SPECTROSCOPY & RADIATIVE TRANSFER, 175, 90–99.
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants Jones, S. A., Valayannopoulos, V., Schneider, E., Eckert, S., Banikazemi, M., Bialer, M., … Quinn, A. G. (2016). Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. GENETICS IN MEDICINE, 18(5), 452–458.
Living donor liver transplantation for inborn errors of metabolism - An underutilized resource in the United States. Pham, T. A., Enns, G. M., & Esquivel, C. O. (2016). Living donor liver transplantation for inborn errors of metabolism - An underutilized resource in the United States. Pediatric Transplantation, 20(6), 770–773.
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Yang, H., Douglas, G., Monaghan, K. G., Retterer, K., Cho, M. T., Escobar, L. F., … Chung, W. K. (2015). De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Cold Spring Harbor Molecular Case Studies, 1(1).
The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors. Schillaci, L.-A. P., Greene, C. L., Strovel, E., Rispoli-Joines, J., Spector, E., Woontner, M., … Bedoyan, J. K. (2016). The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors. Molecular Genetics and Metabolism, 119(1-2), 50–56.
Genitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX4 Abdul-Rahman, O. A., La, T. H., Kwan, A., Schlaubitz, S., Barsh, G. S., Enns, G. M., & Hudgins, L. (2006). Genitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX4. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 140A(14), 1567–72.
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. Camp, K. M., Krotoski, D., Parisi, M. A., Gwinn, K. A., Cohen, B. H., Cox, C. S., … Coates, P. M. (2016). Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. Molecular Genetics and Metabolism, 119(3), 187–206.
Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders. Vockley, J., Charrow, J., Ganesh, J., Eswara, M., DIAZ, G. A., McCracken, E., … Marsden, D. L. (2016). Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders. Molecular Genetics and Metabolism, 119(3), 223–231.
Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature. Sylvester, K. G., Kastenberg, Z. J., Moss, R. L., Enns, G. M., Cowan, T. M., Shaw, G. M., … Jelliffe-Pawlowski, L. L. (2017). Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature. Journal of Pediatrics, 181, 80–85 e1.
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria Olahova, M., Thompson, K., Hardy, S. A., Barbosa, I. A., Besse, A., Anagnostou, M.-E., … Taylor, R. W. (2017). Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. JOURNAL OF INHERITED METABOLIC DISEASE, 40(1), 121–130.
Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency. Niemi, A.-K., Brown, C., Moore, T., Enns, G. M., & Cowan, T. M. (2014). Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency. Molecular Genetics and Metabolism Reports, 1, 129–32.
Glutathione as a Redox Biomarker in Mitochondrial Disease-Implications for Therapy. Enns, G. M., & Cowan, T. M. (2017). Glutathione as a Redox Biomarker in Mitochondrial Disease-Implications for Therapy. Journal of Clinical Medicine, 6(5).
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., … Mercier, S. (2017). De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. American Journal of Human Genetics, 101(5), 768–88.
PRENATAL TREATMENT OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY Wilnai, Y., Alcorn, D., Benitz, W., Berquist, W., Bernstein, J., Blumenfeld, Y. J., … Enns, G. M. (2014). PRENATAL TREATMENT OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY. MOLECULAR GENETICS AND METABOLISM, 111(3), 248.
Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy. Scott, A. I., Cusmano-Ozog, K., Enns, G. M., & Cowan, T. M. (2017). Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy. Molecular Genetics and Metabolism.
Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency Jones, S. A., Bernstein, D., Bialer, M., Dhawan, A., Hendriksz, C., Whitley, C. B., … Valayannopouloss, V. (2014). Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency. MOLECULAR GENETICS AND METABOLISM, 111(2), S57–S58.
PERSPECTIVES ON UREA CYCLE DISORDER MANAGEMENT: RESULTS OF A CLINICIAN SURVEY Burdett, A., Francis-Sedlak, M., Vockley, J., & Enns, G. M. (2018). PERSPECTIVES ON UREA CYCLE DISORDER MANAGEMENT: RESULTS OF A CLINICIAN SURVEY. MOLECULAR GENETICS AND METABOLISM, 123(3), 221–22.
Management of ophthalmologic manifestations of mitochondrial diseases Response Parikh, S., Goldstein, A., Karaa, A., Koenig, M. K., Anselm, I., Brunel-Guitton, C., … Chinnery, P. F. (2017). Management of ophthalmologic manifestations of mitochondrial diseases Response. GENETICS IN MEDICINE, 19(12).
Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes Zaghlula, M., Glaze, D. G., Enns, G. M., Potocki, L., Schwabe, A. L., & Suter, B. (2018). Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 176(7), 1683–87.
An unusual case of Pompe disease presenting as muscular dystrophy Cusmano-Ozog, K., Vogel, H., Cowan, T., & Enns, G. (2008). An unusual case of Pompe disease presenting as muscular dystrophy. MOLECULAR GENETICS AND METABOLISM, 93(2), S18.
RATE OF LEUCINE CLEARANCE IN MSUD Scott, A. I., Cusmano-Ozog, K., Enns, G. M., & Cowan, T. M. (2016). RATE OF LEUCINE CLEARANCE IN MSUD. MOLECULAR GENETICS AND METABOLISM, 117(3), 284.
Monitoring mitochondrial disease related nephropathy and subclinical redox stress of the brain in the kd/kd murine model Blankenberg, F., & Enns, G. (2014). Monitoring mitochondrial disease related nephropathy and subclinical redox stress of the brain in the kd/kd murine model. JOURNAL OF NUCLEAR MEDICINE, 55.
HMPAO uptake assay with t-BHP or irradiation of primary patient SURF-1 fibroblast cultures Holman, E., Enns, G., & Blankenberg, F. (2014). HMPAO uptake assay with t-BHP or irradiation of primary patient SURF-1 fibroblast cultures. JOURNAL OF NUCLEAR MEDICINE, 55.
Correlation of HMPAO uptake with live single cell synchrotron mid-Infrared spectromicroscopy in inherited mitochondrial disease Holman, E., Chen, L., Holman, H.-Y., Enns, G., & Blankenberg, F. (2015). Correlation of HMPAO uptake with live single cell synchrotron mid-Infrared spectromicroscopy in inherited mitochondrial disease. JOURNAL OF NUCLEAR MEDICINE, 56(3).
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway (vol 111, pg 236, 2014) Enns, G. M., Shashi, V., Bainbridge, M., Gambello, M. J., Zahir, F. R., Bast, T., … Chen, R. (2014). Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway (vol 111, pg 236, 2014). GENETICS IN MEDICINE, 16(7), 568.
CORRELATION OF GLUTATHIONE REDOX POTENTIAL WITH MITOCHONDRIAL DISEASE ETIOLOGY AND CLINICAL SEVERITY Enns, G. M., Moore, T., Le, A., Atkuri, K., Shah, M. K., Cusmano-Ozog, K., … Cowan, T. M. (2014). CORRELATION OF GLUTATHIONE REDOX POTENTIAL WITH MITOCHONDRIAL DISEASE ETIOLOGY AND CLINICAL SEVERITY. MOLECULAR GENETICS AND METABOLISM, 111(3), 268.
MUTATIONS IN NGLY1 CAUSE AN INHERITED DISORDER OF THE ENDOPLASMIC RETICULUM-ASSOCIATED DEGRADATION (ERAD) PATHWAY Enns, G. M., Shashi, V., Zahir, F., Gambello, M. J., Bainbridge, M. N., Bast, T., … Goldstein, D. B. (2014). MUTATIONS IN NGLY1 CAUSE AN INHERITED DISORDER OF THE ENDOPLASMIC RETICULUM-ASSOCIATED DEGRADATION (ERAD) PATHWAY. MOLECULAR GENETICS AND METABOLISM, 111(3), 236–37.
Severe multi-systemic presentation of COX10 deficiency Wilnai, Y., Cox, R., Bai, R., & Enns, G. M. (2013). Severe multi-systemic presentation of COX10 deficiency. MITOCHONDRION, 13(6), 926.
Biomarkers of redox abnormalities in mitochondrial disorders and organic acidemias Atkuri, K. R., Cowan, T. M., Procaccio, V., Herzenberg, L. A., & Enns, G. M. (2010). Biomarkers of redox abnormalities in mitochondrial disorders and organic acidemias. MITOCHONDRION, 10(2), 206–7.
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Zastrow, D. B., Baudet, H., Shen, W., Thomas, A., Si, Y., Weaver, M. A., … Mao, R. (2018). Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Human Mutation, 39(11), 1569–80.
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns. Peng, G., de Fontnouvelle, C. A., Enns, G. M., Cowan, T. M., Zhao, H., & Scharfe, C. (2018). Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns. Molecular Genetics and Metabolism.
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. Manoli, I., Sysol, J. R., Epping, M. W., Li, L., Wang, C., Sloan, J. L., … Venditti, C. P. (2018). FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. JCI Insight, 3(23).
Mitochondrial disease phenotypes of 999 patients in the North American Mitochondrial Disease Consortium (NAMDC) Barca, E., Cooley, V., Schoenaker, R., Emmanuele, V., DiMauro, S., Cohen, B., … Hirano, M. (2018). Mitochondrial disease phenotypes of 999 patients in the North American Mitochondrial Disease Consortium (NAMDC). NEUROLOGY, 90.
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Ah Mew, N., Cnaan, A., McCarter, R., Choi, H., Glass, P., Rice, K., … Tuchman, M. (2018). Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Translational Science of Rare Diseases, 3(3-4), 157–70.
Immunohistochemical analysis of cytochrome oxidase deficiency using fixed tissues Vogel, H., Masek, M., Gallagher, R., & Enns, G. (2006). Immunohistochemical analysis of cytochrome oxidase deficiency using fixed tissues. BRAIN PATHOLOGY, 16, S167.
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia. Peng, G., Shen, P., Gandotra, N., Le, A., Fung, E., Jelliffe-Pawlowski, L., … Scharfe, C. (2018). Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia. Genetics in Medicine : Official Journal of the American College of Medical Genetics.
Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function (vol 386, pg 319, 2005) Van Kuilenburg, A. B., Meinsma, R., Beke, E., Bobba, B., Boffi, P., Enns, G. M., … Dobritzsch, D. (2005). Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function (vol 386, pg 319, 2005). BIOLOGICAL CHEMISTRY, 386(10), 1075.
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Parikh, S., Goldstein, A., Karaa, A., Koenig, M. K., Anselm, I., Brunel-Guitton, C., … Chinnery, P. F. (2017). Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genetics in Medicine : Official Journal of the American College of Medical Genetics, 19(12).
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency. Mahapatra, S., Ananth, A., Baugh, N., Damian, M., & Enns, G. M. (2018). Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency. JIMD Reports, 39, 19–23.
STANDARDIZING METABOLIC DISEASE GENE AND VARIANT CURATION: THE CLINGEN INBORN ERRORS OF METABOLISM WORKING GROUP Zastrow, D., Baudet, H., Thomas, A., Shen, W., Si, C., Weaver, M., … Mao, R. (2019). STANDARDIZING METABOLIC DISEASE GENE AND VARIANT CURATION: THE CLINGEN INBORN ERRORS OF METABOLISM WORKING GROUP. MOLECULAR GENETICS AND METABOLISM, 126(3), 336–40.

References: V. 
 V. 
 V. 
 V. 
 V. 
 V.