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 33
  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, 110 p. 26 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: Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature Review -- Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease -- Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II -- Gastrointestinal Health in Classic Galactosemia -- Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses -- Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria -- The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency -- Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency -- Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features -- Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling -- Peak Jump Power Reflects the Degree of Ambulatory Ability in Patients with Mitochondrial and Other Rare Diseases -- RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? -- Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) -- Erratum to: Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency -- Erratum to: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).
  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, 33
  identifier: 9783662550120
  identifier: http://dx.doi.org/10.1007/978-3-662-55012-0
  record info:
    record creation date: 170502
    record change date: 20171026065531.0
    record identifier: 978-3-662-55012-0