Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI)
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DOI: 10.3390/genes13101835
Abstract: Lactate dehydrogenase (LDH) catalyzes the reversible conversion of L-lactate to pyruvate. LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM#612933) caused by mutations in the LDHA gene. We present two young adult female… read more here.
Keywords: mutations ldha; ldha gene; clinical biochemical; molecular characterization ... See more keywords