Title JIMD reports. Volume 12 / Johannes Zschocke, K. Michael Gibson, editors-in-chief ; Garry Brown, Eva Morava, editors ; Verena Peters, managing editor

Published Cham : Springer, 2014

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Description 1 online resource (150 pages) : illustrations Series JIMD Reports ; 12 JIMD reports ; v. 12. Contents Contents -- Propionic Acidemia and Optic Neuropathy: A Report of Two Cases -- Abstract -- Introduction -- Case Reports -- Discussion -- Synopsis -- References -- Chronic Kidney Disease in an Adult with Propionic Acidemia -- Abstract -- Introduction -- Methods and Results -- Clinical Summary -- Renal Evaluation -- Summary and Discussion -- Synopsis -- References -- Transient Massive Trimethylaminuria Associated with Food Protein-Induced Enterocolitis Syndrome -- Abstract -- Introduction -- Case Presentation -- Discussion -- Synopsis Compliance with Ethics GuidelinesReferences -- Chiari 1 Malformation and Holocord Syringomyelia in Hunter Syndrome -- Abstract -- Introduction -- Clinical Description -- Discussion -- Take-Home Messages -- References -- A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment -- Abstract -- Introduction -- Materials and Methods -- Clinical Data -- Enzyme Measurements -- SNP Array Analysis and Homozygosity Mapping -- Mutation Analysis -- Blue Native, SDS-PAGE, and In-Gel Activity Assays Antibodies and ECL DetectionLentiviral Complementation of Patient Fibroblasts -- Riboflavin Treatment of Patient Cells -- Modeling -- Results -- Enzyme Measurements and Gel Analyses -- Gene and Conservation Analyses -- Modeling of the p. Ala220Val Mutation -- Functional Complementation -- Riboflavin Treatment of Fibroblasts -- Discussion -- Take-Home Message -- References -- Pulmonary Manifestations in a Patient with Transaldolase Deficiency -- Abstract -- Introduction -- Case Report -- Discussion -- Conclusion -- Conflict of Interest AuthorsÂ? ContributionsTake-Home Message -- References -- Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility -- Abstract -- Introduction -- Material and Methods -- Results -- Discussion -- Synopsis -- Conflict of Interest -- Informed Consent -- Details of the Contributions of Individual Authors -- References -- A Japanese Adult Case of Guanidinoacetate Methyltransferase Deficiency -- Abstract -- Introduction -- Case Report -- Discussion -- Take-Home Message Summary 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 Bibliography Includes bibliographical references at the end of each chapters Notes English Print version record Subject Metabolism, Inborn errors of -- Research HEALTH & FITNESS -- Diseases -- General. MEDICAL -- Clinical Medicine. MEDICAL -- Diseases. MEDICAL -- Evidence-Based Medicine. MEDICAL -- Internal Medicine. Médecine. Human genetics Human physiology Medicine Metabolism -- Disorders Pediatrics Form Electronic book Author Zschocke, Johannes, editor Gibson, Kenneth Michael, 1955- editor Brown, Garry, editor Morava, Eva, editor ISBN 9783319034614 3319034618 9783319034621 3319034626

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