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Results 1 - 2 of 2 for PHGDH deficiency
  1. ... condition. 3-PGDH deficiency 3-phosphoglycerate dehydrogenase deficiency PHGDH deficiency Genetic Testing Registry: PHGDH deficiency National Organization for ...
  2. ... brain barrier). At least eight mutations in the PHGDH gene have been found to cause phosphoglycerate dehydrogenase deficiency. This condition is characterized by an unusually small ...