JIMD Reports - Case and Research Reports, 2012/3 [electronic resource] /
Society for the Study of Inborn Errors of Metabolism.
SSIEM.editor.
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Description based upon print version of record.
JIMD Reports -Case and Research Reports, 2012/3; Contents; Platelet Hexosaminidase A Enzyme Assay Effectively Detects Carriers Missed by Targeted DNA Mutation Analysis; Abstract; Introduction; Materials and Methods; Results; Discussion; Take Home Message; Competing Interests; Authors ́ Contributions; References; A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency; Abstract; Introduction; Materials and Methods; Solvents, Reagents, and Internal Calibrators; Organic Acids, Acylglycines, Carnitine, and Acylcarnitines; Enzyme Studies on Cultured Fibroblasts; Gene Studies
De Novo Synthesis of Acylcarnitines in Whole Blood SamplesHomology Modeling; Case Report; Results; Biological Explorations; Biochemical Explorations on Cultured Skin Fibroblasts; Serum and Whole Blood Carnitine and Acylcarnitine Levels; De Novo Synthesis of Acylcarnitines by Whole Blood Samples; Genetic Studies; Structural Analysis; Discussion; Synopsis; Competing Interest; References; Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome; Abstract; Introduction; Methods; Case Reports; Patient A; Patient B; Results; Discussion; Synopsis Statement; Jessica Scott Schwoerer
Conflict of Interest QuestionsGregory Rice; Conflict of Interest Questions; References; Dihydropyrimidinase Deficiency: The First Feline Case of Dihydropyrimidinuria with Clinical and Molecular Findings; Abstract; Introduction; Subject; Methods; Sequencing Analysis; PCR-Primer Introduced Restriction Analysis; Population Study of c.1303G>A (p.G435R) Mutation; Results; Sequence Analysis of the Feline DPYS Gene; PCR-PIRA for c.951-7_9delCTT; Population Study of c.1303G>A (p.G435R) Mutation; Discussion; Synopsis; References
Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote DetectionAbstract; Introduction; Materials and Methods; Subjects; Patients; Cascade Screening; Population Study; DNA Diagnosis; Results and Discussion; The Basis for a Preconception Screening; References; Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance; Abstract; Introduction; Materials and Methods; Patients; Analysis of Genomic DNA
Multiplex Ligation-Dependent Probe Amplification AnalysisMultiplex-PCR Analysis to Confirm Homozygous Large Deletion; Breakpoint Determination; Quantitative Fluorescent Multiplex-PCR of Exons 1 and 2; Results; ALDOB Mutated Alleles Identified in Our HFI Cohort and Their Distribution; The New Mutated Allele c.940_941dupT; A New Large Deletion Encompassing the Promoter Region and Exon 1; Homozygous g.7840_14288del6448 Large Deletion; Heterozygous g.7840_14288del6448 Large Deletion; Discussion; Synopsis; Conflict of Interest; References
Cross Correction Following Haemopoietic Stem Cell Transplant for Purine Nucleoside Phosphorylase Deficiency: Engrafted Donor-Derived White Blood Cells ProvideEnzyme to Residual Enzyme-Deficient Recipient Cells
Includes bibliographical references.
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Human genetics.
Metabolic diseases.
Pediatrics.
Human physiology.
Human Genetics.
Metabolic Diseases.
Pediatrics.
Human Physiology.
JIMD reports