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Rigshospitalet - a part of Copenhagen University Hospital

Journal of Inherited Metabolic Disease, 0141-8955

Journal

Latest publications View all (35) »

  1. E-pub ahead of print

    Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Research output: Contribution to journal › Journal article › Research › peer-review

  2. Published

    Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. Published

    Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study

    Research output: Contribution to journal › Journal article › Research › peer-review

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Journal of Inherited Metabolic Disease

J INHERIT METAB DIS, Journal of inherited metabolic disease, Journal of inherited metabolic disease., Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism, Medline Abbreviated Title: J Inherit Metab Dis

Titles
  • Journal of Inherited Metabolic Disease
ISSNs
  • 0141-8955
Additional searchable ISSN (Electronic)1573-2665
PublisherSpringer Netherlands
CountryNetherlands

Journal

ID: 45799