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Aldolase A deficiency: Report of new cases and literature review

Aldolase A (ALDOA), is the predominant isoform of aldolase in skeletal muscle and erythrocytes that catalyzes the reversibleconversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate. Autosomal recessive mutations in ALDOA, are extremely rare and cause hemolytic anemia and/or recurrent ep...

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Detalles Bibliográficos
Autores principales:	Papadopoulos, C., Svingou, M., Kekou, K., Vergnaud, S., Xirou, S., Niotakis, G., Papadimas, G.K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7907525/ https://www.ncbi.nlm.nih.gov/pubmed/33665120 http://dx.doi.org/10.1016/j.ymgmr.2021.100730

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