TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: Hyperphenylalaninemia, BH4-Deficient, B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268467
Disease: Hyperphenylalaninemia, BH4-Deficient, B
Hyperphenylalaninemia, BH4-Deficient, B 		0.010 Biomarker disease BEFREE We report four patients with TH deficiency and two with GTP cyclohydrolase I deficiency. 12891655 2003