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Hyperphenylalaninemia, BH4-Deficient, B MeSH Supplementary Concept Data 2024


MeSH Supplementary
Hyperphenylalaninemia, BH4-Deficient, B
Unique ID
C562656
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C562656
Entry Term(s)
GTP Cyclohydrolase I Deficiency
GTPCH deficiency
HPABH4B
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To GTP Cyclohydrolase I Deficiency
Registry Number
0
Heading Mapped to
*Phenylketonurias
Frequency
12
Note
mutation in GCH1
Date of Entry
2012/11/05
Revision Date
2022/11/02
Hyperphenylalaninemia, BH4-Deficient, B Preferred
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