GTP cyclohydrolase I deficiency (Q54889350)
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No description defined
- BH4-deficient hyperphenylalaninemia B
- HPABH4B
- hyperphenylalaninemia, BH4-deficient, B
- Gtp Cyclohydrolase 1 Deficiency
- GTPCH deficiency
- Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due to Gtp Cyclohydrolase 1 Deficiency
- Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
- Hyperphenylalaninemia, Bh4-Deficient, type B
- HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B
- Dystonia, Dopa-Responsive, With or Without Hyperphenylalaninemia, Autosomal Recessive
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | GTP cyclohydrolase I deficiency |
No description defined |
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Statements
C141442
0 references
C141442
1 reference
Identifiers
1 reference
1 reference
1 reference
1 reference
1 reference
1 reference