Pyruvate dehydrogenase phosphatase deficiency
Definition:
References:
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[1]. J M Cameron, et al. Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype. Hum Genet. 2009 Apr;125(3):319-26. [Content Brief]
[2]. M C Maj, et al. Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?. Mol Cell Endocrinol. 2006 Apr 25;249(1-2):1-9. [Content Brief]
[3]. Mary C Maj, et al. Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. J Clin Endocrinol Metab. 2005 Jul;90(7):4101-7. [Content Brief]
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