Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII.

Human phosphofructokinase (PFK) exists in tetrameric isozymic forms, at least in vitro. Muscle and liver contain homotetramers M4 and L4, respectively, whereas red cells contain five isozymes composed of M (muscle) and L (liver) type subunits, i.e., M4, M3L, M2L2, and ML3, and L4. Homozygous deficie...

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Autores principales: Vora, S, DiMauro, S, Spear, D, Harker, D, Danon, M J
Formato: Artigo
Lenguaje:Inglês
Publicado: 1987
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC442407/
https://ncbi.nlm.nih.gov/pubmed/2960695
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