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
    part number: Volume 32
  name:
    name part: Morava, Eva
    role:
      role term: editor.
  name:
    name part: Baumgartner, Matthias R.
    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.
  type of resource: text
  genre: bibliography
  genre: elektronické knihy
  genre: electronic books
  origin info:
    place:
      place term: gw
    date issued: 2017
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: remote
    extent: 1 online resource (vi, 124 pages) : illustrations (some color)
  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: Eva Morava, editor-in-chief ; Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, editors ; Verena Peters, managing editor.
  note: Plný text je dostupný pouze z IP adres počítačů Univerzity Tomáše Bati ve Zlíně nebo vzdáleným přístupem pro zaměstnance a studenty
  note: Includes bibliographical references.
  subject:
    topic: Metabolism, Inborn errors of
  subject:
    topic: Metabolism
    topic: Disorders
  related item:
    title info:
      title: JIMD reports
  identifier: 9783662543856
  identifier: 9783662543849
  identifier: https://proxy.k.utb.cz/login
  access condition: Plný text je dostupný pouze z IP adres počítačů Univerzity Tomáše Bati ve Zlíně nebo vzdáleným přístupem pro zaměstnance a studenty
  record info:
    record content source: N$T
    record creation date: 170302
    record change date: 20251008101049.0
    record identifier: 97211
    language of cataloging:
      language term: eng