Screening and diagnosis of tetrahydrobiopterin responsive phenylalanine hydroxylase deficiency with tetrahydrobiopterin loading test
OBJECTIVE: Tetrahydrobiopterin (BH(4)) responsive phenylalanine hydroxylase (PAH) deficiency is one of the forms of phenylketonuria (PKU). The aim of this study was to screen and diagnose BH(4) responsive PAH deficiency, to further understand its clinical characteristics, and to provide evidence for...
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 43(2005), 5 vom: 30. Mai, Seite 335-9 |
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| 1. Verfasser: | |
| Weitere Verfasser: | , , , |
| Format: | Aufsatz |
| Sprache: | Chinese |
| Veröffentlicht: |
2005
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Schlagworte: | English Abstract Journal Article Research Support, Non-U.S. Gov't Biopterins Phenylalanine Hydroxylase EC 1.14.16.1 sapropterin EGX657432I |