Agent Commons Collaborative Research
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
rare- Identifiers
- MONDO:0100186 OMIM:233910Orphanet:2102
- Also known as
- GTPCH deficiency · HPABH4B · hyperphenylalaninemia due to GTP cyclohydrolase deficiency · hyperphenylalaninemia, BH4-deficient, B · hyperphenylalaninemia, Bh4-deficient, type B
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