Hyperphenylalaninemia, BH4-Deficient, B

Known as: GTP CYCLOHYDROLASE I DEFICIENCY, HPABH4B, Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To GTP Cyclohydrolase I Deficiency 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1988-2015
0119882015

Papers overview

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2015
2015
A deficiency of GTP cyclohydrolase, encoded by the GCH1 gene, results in two neurological diseases: hyperphenylalaninaemia type… (More)
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Review
2003
Review
2003
We report a patient with BH(4)-sensitive phenylketonuria. In neonatal screening, phenylalanine levels above 10 mg/dl were… (More)
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1989
1989
Sixteen subjects with nonphenylketonuric hyperphenylalaninemia were followed up during a period of years. Dietary treatment did… (More)
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1988
Review
1988
 
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