06107nam 22008295 450 991030007820332120200703223643.03-319-03461-810.1007/978-3-319-03461-4(CKB)2550000001199607(EBL)1698326(OCoLC)880458183(SSID)ssj0001178442(PQKBManifestationID)11675370(PQKBTitleCode)TC0001178442(PQKBWorkID)11168958(PQKB)10358893(MiAaPQ)EBC1698326(DE-He213)978-3-319-03461-4(PPN)176107940(EXLCZ)99255000000119960720140121d2014 u| 0engur|n|---|||||txtccrJIMD Reports - Volume 12 /edited by Johannes Zschocke, K Michael Gibson, Garry Brown, Eva Morava, Verena Peters1st ed. 2014.Cham :Springer International Publishing :Imprint: Springer,2014.1 online resource (130 p.)JIMD Reports,2192-8304 ;12Description based upon print version of record.3-319-03460-X Includes bibliographical references at the end of each chapters.""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""""References""""Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation""; ""Abstract""; ""Introduction""; ""Methods""; ""Study Design and Population""; ""Statistical Analysis""; ""Results""; ""Discussion""; ""Study Limitations""; ""Conclusion""; ""Contribution""; ""Disclosures""; ""References""; ""Niemann-Pick Disease Type C: New Aspects in a Long Published Family - Partial Manifestations in Heterozygotes""; ""Abstract""; ""Introduction""; ""Case Report""; ""Genetic Testing""; ""Results and Discussion""; ""Synopsis""""Compliance with Ethics Guidelines""""References""; ""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 Detection""""Lentiviral 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? Contributions""""Take-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""""Compliance with Ethics Guidelines""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.JIMD Reports,2192-8304 ;12Human geneticsMetabolic diseasesPediatricsHuman physiologyHuman Geneticshttps://scigraph.springernature.com/ontologies/product-market-codes/B12008Metabolic Diseaseshttps://scigraph.springernature.com/ontologies/product-market-codes/H33118Pediatricshttps://scigraph.springernature.com/ontologies/product-market-codes/H49006Human Physiologyhttps://scigraph.springernature.com/ontologies/product-market-codes/B13004Human genetics.Metabolic diseases.Pediatrics.Human physiology.Human Genetics.Metabolic Diseases.Pediatrics.Human Physiology.616.39042Zschocke Johannesedthttp://id.loc.gov/vocabulary/relators/edtGibson K Michaeledthttp://id.loc.gov/vocabulary/relators/edtBrown Garryedthttp://id.loc.gov/vocabulary/relators/edtMorava Evaedthttp://id.loc.gov/vocabulary/relators/edtPeters Verenaedthttp://id.loc.gov/vocabulary/relators/edtMiAaPQMiAaPQMiAaPQBOOK9910300078203321JIMD Reports - Volume 122523472UNINA