JIMD Reports - Case and Research Reports, 2011/1 [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, 2011/1; Contents; Psychosocial Aspects of Predictive Genetic Testing for Acute Intermittent Porphyria in Norwegian Minors; Introduction; Acute Intermittent Porphyria; Genetic Counselling and Testing; Previous Research; Objective; Methods; Recruitment and Sample; Data Collection; Data Analysis and Interpretative Descriptive Method; Results; Living with a Small Intruder; Worrying About and Planning for the Future; Seeking Information as Needed; AIP a Vague Condition; Discussion; Strengths and Limitations; Conclusion and Clinical Implications; References
Enzyme Replacement Therapy and Extended Newborn Screening for Mucopolysaccharidoses: Opinions of Treating PhysiciansIntroduction; Methods; Statistical Analysis; Results; Enzyme Replacement Therapy; Expanded Newborn Screening; Discussion; Take Home Message; References; Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease; Introduction; Materials and Methods; Results and Discussion; Synopsis; References; Generalized Arterial Calcification of Infancy: Fatal Clinical Course Associated with a Novel Mutation in ENPP1; Introduction; Case Report
Genetic AnalysisDiscussion; References; Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders; Introduction; Materials and Methods; Culture of LCLs; Immunofluorescence Staining of LCL; Complementation Analysis; Biochemistry; Patient and Control Cell Lines; Results; Immunofluorescence Staining of Peroxisomal Markers; Complementation of Peroxisome Biogenesis in a PBD Cell Line; Measurement of Peroxisomal Metabolites in LCL; Discussion; Synopsis; Details of Contributions of Individual Authors; Name of Author Serving as Guarantor; Competing Interest; Details of Funding
Details of Ethics ApprovalReferences; First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance; References; Foot Process Effacement with Normal Urinalysis in Classic Fabry Disease; Introduction; Case Report; Physical Examination and Laboratory Data; Renal Pathologic Findings with Normal Urinalysis; Discussion; Conclusions; Synopsis; Details of the Contributions of Individual Authors; Name of One Author Who Serves as Guarantor for This Article; A Competing Interest Statement; Details of Funding; Details of Ethics Approval for This Study; References
Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein IntoleranceIntroduction; Methods; Results; IGF-1 Values, GH Provocative Tests and Effect of GH Therapy on Growth; Nutrition and Dietary Intakes; Discussion; Take Home Message; References; Outcomes of Phenylketonuria with Relevance to Follow-Up; Introduction; Designing a PKU Follow-Up Programme: Points to Consider; Individually Tailored Treatment; Normal Neurological Outcomes; Psychosocial Outcomes; Nutritional Outcomes; Quality of Life Outcomes; Designing a PKU Follow-Up Programme: What Elements Should It Contain?
Conclusion
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