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 32
  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, 124 p. 30 illus., 15 illus. in color. 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: Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme -- Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients -- Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study -- Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings -- Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles -- Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative Analysis -- The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease -- Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy Infants -- A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria -- Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression -- Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy -- Management of an LCHADD Patient During Pregnancy and High Intensity Exercise -- Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy -- Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias -- Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
  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, 32
  identifier: 9783662543856
  identifier: http://dx.doi.org/10.1007/978-3-662-54385-6
  record info:
    record creation date: 170228
    record change date: 20170316144812.0
    record identifier: 978-3-662-54385-6