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  3. Journal of Inherited Metabolic Disease
Rigshospitalet - a part of Copenhagen University Hospital

Journal of Inherited Metabolic Disease, 0141-8955

Journal

Latest publications View all (32) »

  1. E-pub ahead of print

    Is the alpha-galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review

    Research output: Contribution to journal › Review › Research › peer-review

  2. Published

    Increased risk of sudden death in untreated Primary Carnitine Deficiency

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

  3. Published

    Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine

    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