LEADER 04666nam 22006375 450 001 9910298425003321 005 20200702115032.0 010 $a3-662-56610-9 024 7 $a10.1007/978-3-662-56610-7 035 $a(CKB)4100000002892568 035 $a(MiAaPQ)EBC5356863 035 $a(DE-He213)978-3-662-56610-7 035 $a(PPN)225547767 035 $a(EXLCZ)994100000002892568 100 $a20180328d2018 u| 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aJIMD Reports, Volume 38 /$fedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters 205 $a1st ed. 2018. 210 1$aBerlin, Heidelberg :$cSpringer Berlin Heidelberg :$cImprint: Springer,$d2018. 215 $a1 online resource (105 pages) 225 1 $aJIMD Reports,$x2192-8304 ;$v38 311 $a3-662-56609-5 327 $aFirst Successful Conception Induced by a Male Cystinosis Patient -- Glutaric Acidemia Type 1: A Case of Infantile Stroke -- Treatment of Depression in Adults with Fabry Disease -- Mutations in GMPPB Presenting with Pseudometabolic Myopathy -- Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations -- Successful Management of Pregnancies in Patients with Inherited Disorders of Ketone Body Metabolism -- Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry -- Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency -- GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A -- Effect of Lorenzo?s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice -- Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening -- Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 -- A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment -- An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia -- Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency. 330 $aJIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder. The chapter 'Open-Label Single-Sequence Crossover Study Evaluating Pharmacokinetics, Efficacy, and Safety of Once-Daily Dosing of Nitisinone in Patients with Hereditary Tyrosinemia Type 1 (HT-1)' is open access under a CC BY 4.0 license via link.springer.com. 410 0$aJIMD Reports,$x2192-8304 ;$v38 606 $aHuman genetics 606 $aMetabolic diseases 606 $aPediatrics 606 $aMolecular biology 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 $aMolecular Medicine$3https://scigraph.springernature.com/ontologies/product-market-codes/B1700X 615 0$aHuman genetics. 615 0$aMetabolic diseases. 615 0$aPediatrics. 615 0$aMolecular biology. 615 14$aHuman Genetics. 615 24$aMetabolic Diseases. 615 24$aPediatrics. 615 24$aMolecular Medicine. 676 $a616.39042 702 $aMorava$b Eva$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aBaumgartner$b Matthias$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aPatterson$b Marc$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aRahman$b Shamima$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aZschocke$b Johannes$4edt$4http://id.loc.gov/vocabulary/relators/edt 702 $aPeters$b Verena$4edt$4http://id.loc.gov/vocabulary/relators/edt 906 $aBOOK 912 $a9910298425003321 996 $aJIMD Reports, Volume 38$92499328 997 $aUNINA