LEADER 04704nam 22006375 450 001 9910298416303321 005 20200706230247.0 010 $a3-662-58081-0 024 7 $a10.1007/978-3-662-58081-3 035 $a(CKB)4100000006098244 035 $a(MiAaPQ)EBC5506236 035 $a(DE-He213)978-3-662-58081-3 035 $a(PPN)229911927 035 $a(EXLCZ)994100000006098244 100 $a20180831d2018 u| 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aJIMD Reports, Volume 41 $eFocus Issue: Adults and Metabolism /$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 (128 pages) 225 1 $aJIMD Reports,$x2192-8304 ;$v41 311 $a3-662-58080-2 327 $aAssessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment -- Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation -- Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease -- Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an Example -- Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1 -- The Influence of Patient-Reported Joint Manifestations on Quality of Life in Fabry Patients -- Probable Diagnosis of a Patient with Niemann?Pick Disease Type C: Managing Pitfalls of Exome Sequencing -- Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features -- Reduced Muscle Strength in Barth Syndrome May Be Improved by Resistance Exercise Training: A Pilot Study -- Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature -- Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series -- Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental Distress -- P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler?Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years -- Serum Amino Acid Profiling in Patients with Alkaptonuria Before and After Treatment with Nitisinone -- Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. 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,$x2192-8304 ;$v41 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 $a616.39 702 $aMorava$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 $a9910298416303321 996 $aJIMD Reports, Volume 41$92526737 997 $aUNINA