Article
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.
Journal of inherited metabolic disease - 1 Dec 2001
Chien Y H, Chiang S C, Huang A, Lin J M, Chiu Y N, Chou S P, Chu S Y, Wang T R, Hwu W L
Abstract excerpt
Ten cases of tetrahydrobiopterin (BH4) deficiency were identified in 1,337,490 newborns screened in a Chinese population in Taiwan. The high incidence of BH4 deficiency in the Taiwanese population may be explained by a founder effect, since all of the patients revealed 6-pyruvoyltetrahydropterin synthase gene mutations, and grouping N52S and P87S mutations together constituted 88.9% of the disease alleles. BH4...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.