06328nam 22009375 450 991030020990332120240226090155.03-662-43751-110.1007/978-3-662-43751-3(CKB)3710000000321510(EBL)1968526(OCoLC)898476756(SSID)ssj0001408287(PQKBManifestationID)11856285(PQKBTitleCode)TC0001408287(PQKBWorkID)11346385(PQKB)10719726(DE-He213)978-3-662-43751-3(MiAaPQ)EBC1968526(PPN)183150503(EXLCZ)99371000000032151020141218d2015 u| 0engur|n|---|||||txtccrJIMD Reports, Volume 15 /edited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters1st ed. 2015.Berlin, Heidelberg :Springer Berlin Heidelberg :Imprint: Springer,2015.1 online resource (133 p.)JIMD Reports,2192-8304 ;15Description based upon print version of record.3-662-43750-3 Includes bibliographical references.""Contents""; ""4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3""; ""Abstract""; ""Introduction""; ""Materials and Methods""; ""Results""; ""Assay Performance""; ""4OHGlu Levels in Controls and PH3 Families""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Author Contributions""; ""Conflicts of Interest""; ""Ethical Approval""; ""References""; ""Excellent Response to a Ketogenic Diet in a Patient with Alternating Hemiplegia of Childhood""; ""Abstract""; ""Introduction""; ""Patient and Methods""; ""Procedure""; ""Results""; ""Discussion""; ""Synopsis""""Compliance with Ethics and Guidelines""""Conflict of Interest""; ""Informed Consent""; ""Animal Rights""; ""Details of the Contributions of Individual Authors""; ""References""; ""Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment""; ""Abstract""; ""Introduction""; ""Methods""; ""Results""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Conflict of Interest""; ""Details of the Contributions of Individual Authors""; ""References""""Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests ...""""Abstract""; ""Introduction""; ""Subjects and Methods""; ""Results""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Synopsis""; ""Conflict of Interest""; ""Informed Consent""; ""Animal Rights""; ""Details of the Contributions of Individual Authors""; ""Electronic-Database Information""; ""References""; ""Report of Two Never Treated Adult Sisters with Aromatic l-Amino Acid Decarboxylase Deficiency: A Portrait of the Natural Histo...""; ""Abstract""""Introduction""""Patients""; ""Patient 1 (Fig.1; II-3)""; ""Patient 2 (Fig.1; II-4)""; ""Biochemical Phenotype and Genotype""; ""Treatments""; ""Discussion""; ""Compliance with Ethics Guidelines""; ""Synopsis""; ""Conflict of Interest""; ""Ethics Approval""; ""PatientÂ?s Informed Consent""; ""Animal Rights""; ""AuthorsÂ? Contribution""; ""References""; ""Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations""; ""Abstract""; ""Introduction""; ""Methods""; ""Results""; ""Literature Search""""Pharmacotherapy: Recommendation""""Add-on Dietary Treatment: General Recommendations and Rationale""; ""Recommendations (Fig.2)""; ""Rationale""; ""Diet Prescriptions (See Online Supplement for More Details)""; ""Nutritional Aims""; ""Diet Management in (Breastfed) Infants""; ""Assessment of Lysine Content""; ""Lysine-Free Amino Acid Formulas""; ""Monitoring""; ""Clinical Monitoring""; ""Biochemical and Routine Laboratory Monitoring""; ""Nutritional Markers""; ""Neurological Monitoring""; ""Neurodevelopmental Monitoring""; ""Neuro-Radiological Monitoring""; ""Emergency Treatment""""Discussion""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 ;15Human 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/B13004Genètica humanathubTrastorns del metabolismethubPediatriathubFisiologia humanathubLlibres electrònicsthubHuman genetics.Metabolic diseases.Pediatrics.Human physiology.Human Genetics.Metabolic Diseases.Pediatrics.Human Physiology.Genètica humanaTrastorns del metabolismePediatriaFisiologia humana616.39042Zschocke 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/edtMiAaPQMiAaPQMiAaPQBOOK9910300209903321JIMD Reports, Volume 152533812UNINA