LEADER 06328nam 22009375 450 001 9910300209903321 005 20240226090155.0 010 $a3-662-43751-1 024 7 $a10.1007/978-3-662-43751-3 035 $a(CKB)3710000000321510 035 $a(EBL)1968526 035 $a(OCoLC)898476756 035 $a(SSID)ssj0001408287 035 $a(PQKBManifestationID)11856285 035 $a(PQKBTitleCode)TC0001408287 035 $a(PQKBWorkID)11346385 035 $a(PQKB)10719726 035 $a(DE-He213)978-3-662-43751-3 035 $a(MiAaPQ)EBC1968526 035 $a(PPN)183150503 035 $a(EXLCZ)993710000000321510 100 $a20141218d2015 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aJIMD Reports, Volume 15 /$fedited by Johannes Zschocke, K. Michael Gibson, Garry Brown, Eva Morava, Verena Peters 205 $a1st ed. 2015. 210 1$aBerlin, Heidelberg :$cSpringer Berlin Heidelberg :$cImprint: Springer,$d2015. 215 $a1 online resource (133 p.) 225 1 $aJIMD Reports,$x2192-8304 ;$v15 300 $aDescription based upon print version of record. 311 $a3-662-43750-3 320 $aIncludes bibliographical references. 327 $a""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"" 327 $a""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"" 327 $a""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"" 327 $a""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""; ""PatientA??s Informed Consent""; ""Animal Rights""; ""AuthorsA?? Contribution""; ""References""; ""Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations""; ""Abstract""; ""Introduction""; ""Methods""; ""Results""; ""Literature Search"" 327 $a""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"" 327 $a""Discussion"" 330 $aJIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder. 410 0$aJIMD Reports,$x2192-8304 ;$v15 606 $aHuman genetics 606 $aMetabolic diseases 606 $aPediatrics 606 $aHuman physiology 606 $aHuman Genetics$3https://scigraph.springernature.com/ontologies/product-market-codes/B12008 606 $aMetabolic Diseases$3https://scigraph.springernature.com/ontologies/product-market-codes/H33118 606 $aPediatrics$3https://scigraph.springernature.com/ontologies/product-market-codes/H49006 606 $aHuman Physiology$3https://scigraph.springernature.com/ontologies/product-market-codes/B13004 606 $aGenètica humana$2thub 606 $aTrastorns del metabolisme$2thub 606 $aPediatria$2thub 606 $aFisiologia humana$2thub 608 $aLlibres electrònics$2thub 615 0$aHuman genetics. 615 0$aMetabolic diseases. 615 0$aPediatrics. 615 0$aHuman physiology. 615 14$aHuman Genetics. 615 24$aMetabolic Diseases. 615 24$aPediatrics. 615 24$aHuman Physiology. 615 7$aGenètica humana 615 7$aTrastorns del metabolisme 615 7$aPediatria 615 7$aFisiologia humana 676 $a616.39042 702 $aZschocke$b Johannes$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aGibson$b K. Michael$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aBrown$b Garry$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aMorava$b Eva$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aPeters$b Verena$4edt$4http://id.loc.gov/vocabulary/relators/edt 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910300209903321 996 $aJIMD Reports, Volume 15$92533812 997 $aUNINA