Hyperphenylalaninemia, BH4-Deficient, B
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- Molecular Neurobiology
A deficiency of GTP cyclohydrolase, encoded by the GCH1 gene, results in two neurological diseases: hyperphenylalaninaemia type… (More)
We report a patient with BH(4)-sensitive phenylketonuria. In neonatal screening, phenylalanine levels above 10 mg/dl were… (More)
- American journal of diseases of children
Sixteen subjects with nonphenylketonuric hyperphenylalaninemia were followed up during a period of years. Dietary treatment did… (More)
- Annual review of genetics