04573nam 22006615 450 991025392960332120200703120146.03-662-54385-010.1007/978-3-662-54385-6(CKB)3710000001080172(DE-He213)978-3-662-54385-6(MiAaPQ)EBC4814246(PPN)198864973(EXLCZ)99371000000108017220170228d2017 u| 0engurnn|008mamaatxtrdacontentcrdamediacrrdacarrierJIMD Reports, Volume 32[electronic resource] /edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters1st ed. 2017.Berlin, Heidelberg :Springer Berlin Heidelberg :Imprint: Springer,2017.1 online resource (VI, 124 p. 30 illus., 15 illus. in color.) JIMD Reports,2192-8304 ;323-662-54384-2 Includes bibliographical references.Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme -- Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients -- Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study -- Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings -- Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles -- Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis -- The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease -- Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy Infants -- A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria -- Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression -- Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy -- Management of an LCHADD Patient During Pregnancy and High Intensity Exercise -- Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy -- Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias -- Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.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 ;32Human 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.611.01816599.935Morava 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/edtBOOK9910253929603321JIMD Reports, Volume 322019289UNINA