16 top medical experts on Pyruvate Dehydrogenase E1 Alpha Deficiency across 2 countries. This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Pyruvate Dehydrogenase E1 Alpha Deficiency: A disorder that is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Synonyms: Thiamine Responsive Lactic Acidemia
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