Article
Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.
The Journal of clinical endocrinology and metabolism - 1 Jul 2005
Maj Mary C, MacKay Neviana, Levandovskiy Valeriy, Addis Jane, Baumgartner E Regula, Baumgartner Matthias R, Robinson Brian H, Cameron Jessie M
Abstract excerpt
CONTEXT: Pyruvate dehydrogenase phosphatase (PDP) deficiency has been previously reported as an enzymopathy, but the genetic basis for such a defect has never been established. OBJECTIVE: The aim of this study was to identify the cause of the defect in two patients who presented with PDP deficiency. PATIENTS: We studied two brothers of consanguineous parents who presented with neonatal hypotonia, elevated...
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