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020 _a9783662583654
_9978-3-662-58365-4
050 4 _aRB155-155.8
050 4 _aQH431
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_2bisacsh
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082 0 4 _a611.01816
_223
082 0 4 _a599.935
_223
245 1 0 _aJIMD Reports, Volume 42
_h[electronic resource] /
_cedited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
250 _a1st ed. 2018.
264 1 _aBerlin, Heidelberg :
_bSpringer Berlin Heidelberg :
_bImprint: Springer,
_c2018.
300 _aVI, 119 p. 18 illus., 12 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
490 1 _aJIMD Reports,
_x2192-8304 ;
_v42
500 _aAcceso multiusuario
505 0 _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.
520 _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.
541 _fUABC ;
_cTemporal ;
_d01/01/2021-12/31/2023.
650 0 _aHuman genetics.
650 0 _aMetabolic diseases.
650 0 _aPediatrics.
650 0 _aMolecular biology.
650 1 4 _aHuman Genetics.
_0https://scigraph.springernature.com/ontologies/product-market-codes/B12008
650 2 4 _aMetabolic Diseases.
_0https://scigraph.springernature.com/ontologies/product-market-codes/H33118
650 2 4 _aPediatrics.
_0https://scigraph.springernature.com/ontologies/product-market-codes/H49006
650 2 4 _aMolecular Medicine.
_0https://scigraph.springernature.com/ontologies/product-market-codes/B1700X
700 1 _aMorava, Eva.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aBaumgartner, Matthias.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aPatterson, Marc.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aRahman, Shamima.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aZschocke, Johannes.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
700 1 _aPeters, Verena.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
710 2 _aSpringerLink (Online service)
773 0 _tSpringer Nature eBook
776 0 8 _iPrinted edition:
_z9783662583647
776 0 8 _iPrinted edition:
_z9783662583661
830 0 _aJIMD Reports,
_x2192-8304 ;
_v42
856 4 0 _zLibro electrónico
_uhttp://148.231.10.114:2048/login?url=https://doi.org/10.1007/978-3-662-58365-4
912 _aZDB-2-SBL
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