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 28
  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: 2016
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: VI, 135 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: Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 Deficiency -- Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate -- Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy -- The Nutritional Intake of Patients with Organic Acidaemias on Enteral Tube Feeding: Can We Do Better? -- Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease -- LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure -- Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease -- Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS -- Neuropsychological Development in Patients with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency -- Enhancement by Uridine Diphosphate of Macrophage Inflammatory Protein-1 Alpha Production in Microglia Derived from Sandhoff Disease Model Mice -- In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease -- In Utero Diagnosis of Niemann–Pick Type C in the Absence of Family History -- Multiple, Successful Pregnancies in Pompe Disease -- Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans -- Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014).
  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, 28
  identifier: 9783662528471
  identifier: http://dx.doi.org/10.1007/978-3-662-52847-1
  record info:
    record creation date: 160705
    record change date: 20161011074715.0
    record identifier: 978-3-662-52847-1