Table of Contents

JIMD Reports - Case and Research Reports, 2012/1; Copyright page; Contents; Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing; Abstract; Introduction; Patient History; Discussion; Disclosure; References; Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five Patients; Abstract; Introduction; Case Reports; Discussion; References; Glycine and l-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients; Abstract; Introduction Materials and MethodsPatients; Methods; Results; Discussion; Synopsis; Details of the Contributions; Details of Funding; Ethics Approval; References; Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates; Abstract; Introduction; Patients and Methods; Study Population; Methods; Mutation Nomenclature; Statistical Analysis; Results; Discussion; Conclusion; Synopsis; References; Gastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction Syndrome; Abstract; Introduction; Clinical Report; Discussion SynopsisReferences; Generation of a Human Neuronal Stable Cell Model for Niemann-Pick C Disease by RNA Interference; Abstract; Introduction; Materials and Methods; Cell Culture; Transient NPC1-Knockdown in SH-SY5Y Cells; Construction of a Stable Transfected SH-SY5Y Cell Line with shRNA; Reverse Transcription and Quantitative Real-Time PCR; SDS-PAGE and Western Blot Analysis; Protein Determination; Filipin test; Cholesterol measurement by gas chromatography-mass spectrometry; Sphingolipid Determination; Statistical Analysis; Results; Transient NPC1 Knockdown in SH-SY5Y Cells Generation of a Stable Transfected SH-SY5Y Cell Line with shRNAAccumulation of Cholesterol in Stable NPC1-Knockdown SH-SY5Y Cells; Sphingolipid Pattern in Stable NPC1-Knockdown SH-SY5Y Cells; Discussion; Synopsis; References; The Paradox of Hyperdopaminuria in Aromatic L-Amino Acid Deficiency Explained; Abstract; Introduction; Methods; Data Collection; Calculation of l-dopa Availability and Dopamine Production; Renal AADC-Activity with In Vivo Range of l-dopa Supply; Results; Discussion; Take-Home Message; Details of Contributions of Individual Authors; Competing Interest Statement Details of FundingDetails of Ethical Approval; References; A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction; Abstract; Introduction; Subject and Methods; Study Subject; Isolation of Genomic DNA and RNA, RT-PCR and Mutation Analysis; Plasmids; Western Blot Analysis; Immunofluorescence Microscopy; Organic Acid Analysis in Urine; Results; Patient Medical History and Clinical Evaluation; Identification of a Homozygous Mutation in the Acceptor Splice Site of Exon 5 of BSCL2 Expression and Cellular Localization of Aberrant Seipin Proteins 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.