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Glycogen storage disease type III in Inuit children

GLYCOGEN STORAGE DISEASE TYPE III (GSD III) was diagnosed in 4 Inuit children (3 confirmed, 1 suspected case) at our institution over the last decade. This rare autosomal recessive disease, which results from a deficiency of the debranching enzyme required for complete degradation of the glycogen mo...

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Dades bibliogràfiques
Publicat a:CMAJ
Autors principals: Zimakas, Paul James A., Rodd, Celia J.
Format: Artigo
Idioma:Inglês
Publicat: Canadian Medical Association 2005
Matèries:
Accés en línia:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC545759/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15684118/
https://ncbi.nlm.nih.govhttps://doi.org/10.1503/cmaj.1031589
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