LEADER 04496nam 22006375 450 001 9910298429603321 005 20200702005741.0 010 $a3-662-58365-8 024 7 $a10.1007/978-3-662-58365-4 035 $a(CKB)4100000007127563 035 $a(MiAaPQ)EBC5592910 035 $a(DE-He213)978-3-662-58365-4 035 $a(PPN)23246782X 035 $a(EXLCZ)994100000007127563 100 $a20181109d2018 u| 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aJIMD Reports, Volume 42$b[electronic resource] /$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 (116 pages) $cillustrations 225 1 $aJIMD Reports,$x2192-8304 ;$v42 311 $a3-662-58364-X 327 $aAcute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis -- A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy -- Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa -- EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders -- Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair -- The Validity of Bioelectrical Impedance Analysis to Measure Body Composition in Phenylketonuria -- Effect of Storage Conditions on Stability of Ophthalmological Compounded Cysteamine Eye Drops -- Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis -- Mitochondrial Disease in Children: The Nephrologist?s Perspective -- Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients -- Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients -- Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis -- Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12 -- Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review -- Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant. 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,$x2192-8304 ;$v42 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 $a9910298429603321 996 $aJIMD Reports, Volume 42$92544102 997 $aUNINA