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PHGDH deficiency
- ... condition. 3-PGDH deficiency 3-phosphoglycerate dehydrogenase deficiency PHGDH deficiency Genetic Testing Registry: PHGDH deficiency National Organization for ...
- ... 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 ...
