03367nam 22007695 450 991025388880332120200630151145.03-662-49833-210.1007/978-3-662-49833-0(CKB)3710000000645589(EBL)4505126(SSID)ssj0001665630(PQKBManifestationID)16455182(PQKBTitleCode)TC0001665630(PQKBWorkID)14999833(PQKB)11535047(DE-He213)978-3-662-49833-0(MiAaPQ)EBC4505126(PPN)193441969(EXLCZ)99371000000064558920160413d2016 u| 0engur|n|---|||||txtccrJIMD Reports, Volume 26 /edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters1st ed. 2016.Berlin, Heidelberg :Springer Berlin Heidelberg :Imprint: Springer,2016.1 online resource (114 p.)JIMD Reports,2192-8304 ;26Description based upon print version of record.3-662-49832-4 Includes bibliographical references at the end of each chapters.Chapter 1 -- Chapter 2 -- Chapter 3 -- Chapter 4 -- Chapter 5 -- Chapter 6 -- Chapter 7 -- Chapter 8 -- Chapter 9 -- Chapter 10 -- Chapter 11 -- Chapter 12 -- Chapter 13 -- Chapter 14 -- Chapter 15.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 ;26Human geneticsMetabolic diseasesPediatricsMolecular biologyHuman 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/H49006Molecular Medicinehttps://scigraph.springernature.com/ontologies/product-market-codes/B1700XHuman genetics.Metabolic diseases.Pediatrics.Molecular biology.Human Genetics.Metabolic Diseases.Pediatrics.Molecular Medicine.616.39042Morava Evaedthttp://id.loc.gov/vocabulary/relators/edtBaumgartner Matthiasedthttp://id.loc.gov/vocabulary/relators/edtPatterson Marcedthttp://id.loc.gov/vocabulary/relators/edtRahman Shamimaedthttp://id.loc.gov/vocabulary/relators/edtZschocke Johannesedthttp://id.loc.gov/vocabulary/relators/edtPeters Verenaedthttp://id.loc.gov/vocabulary/relators/edtMiAaPQMiAaPQMiAaPQBOOK9910253888803321JIMD Reports, Volume 262527584UNINA