rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: JIMD Reports, Volume 37
  name:
    name part: Morava, Eva.
    role:
      role term: editor.
  name:
    name part: Baumgartner, Matthias.
    role:
      role term: editor.
  name:
    name part: Patterson, Marc.
    role:
      role term: editor.
  name:
    name part: Rahman, Shamima.
    role:
      role term: editor.
  name:
    name part: Zschocke, Johannes.
    role:
      role term: editor.
  name:
    name part: Peters, Verena.
    role:
      role term: editor.
  name:
    name part: SpringerLink (Online service)
  type of resource: text
  origin info:
    place:
      place term: gw
    date issued: 2017
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: VI, 123 p. online resource.
  abstract: 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.
  table of contents: Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency -- Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease -- Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis -- Galactose Epimerase Deficiency: Expanding the Phenotype -- Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism -- Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation -- Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency -- Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? -- Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy -- Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency -- Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria -- The Impact of Fabry Disease on Reproductive Fitness -- Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria -- Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuria (PKU) -- Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.
  note: edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters.
  subject:
    topic: Medicine
  subject:
    topic: Human genetics
  subject:
    topic: Molecular biology
  subject:
    topic: Metabolic diseases
  subject:
    topic: Pediatrics
  subject:
    topic: Biomedicine
  subject:
    topic: Human Genetics
  subject:
    topic: Metabolic Diseases
  subject:
    topic: Pediatrics
  subject:
    topic: Molecular Medicine
  classification: RB155-155.8
  classification: QH431
  classification: 611.01816
  classification: 599.935
  related item:
    title info:
      title: Springer eBooks
  related item:
    title info:
      title: JIMD Reports, 37
  identifier: 9783662563595
  identifier: http://dx.doi.org/10.1007/978-3-662-56359-5
  record info:
    record creation date: 171221
    record change date: 20171221065305.0
    record identifier: 978-3-662-56359-5