## Abstract Autosomal recessive guanosine triphosphate cyclohydrolase (GTPCH) type I deficiency is characterized by complex neurological dysfunction. Patients are usually diagnosed with hyperphenylalaninemia in newborn screening. We describe two unrelated patients without hyperphenylalaninemia who
GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations
β Scribed by B. Garavaglia; F. Invernizzi; M. L. Agostoni Carbone; V. Viscardi; F. Saracino; D. Ghezzi; M. Zeviani; G. Zorzi; N. Nardocci
- Book ID
- 111574761
- Publisher
- Springer
- Year
- 2004
- Tongue
- English
- Weight
- 681 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0141-8955
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