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Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.

A 3 year old boy developed an unusually mild form of glycogen storage disease type IV. Metabolic investigations showed severe abnormalities of fatty acid and carnitine metabolism. A muscle carnitine deficiency was found. Treatment with L-carnitine orally led to a notable improvement in muscle streng...

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Autors principals: Maaswinkel-Mooy, P D, Poorthuis, B J, van Gelderen, H H, van de Kamp, J J
Format: Artigo
Idioma:Inglês
Publicat: 1987
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1778671/
https://ncbi.nlm.nih.gov/pubmed/3479053
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