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Wenbin Zhu, Hanqiang Chen, Yueqing Su, Hong Zhao, Jing Wang, Jinfu Zhou, Yao Chen, Yinglin Zen, Feng Lin, Honghua Zhang
OBJECTIVE: To study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population. METHODS: Peripheral blood samples of 36 patients and their parents with classical type phenylketouria (PKU) were collected. Genomic DNA was extracted. Following PCR amplification, DNA sequencing was carried out to identify the origins of mutations. RESULTS: Twenty types mutations were identified in 63 of the 72 alleles...
April 2015: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
C P Pang, L K Law, Y T Mak, C C Shek, K L Cheung, T W Mak, C W Lam, A Y Chan, T F Fok
During the seven years from January 1989 to December 1995, we investigated 2,269 Chinese infants and young children for metabolic disorders in Hong Kong. These young patients, all aged under 4 years and originated from southern China, were ill with no apparent cause and had clinical manifestations suggestive of inherited metabolic diseases. A spot urine and a plasma sample were obtained from each patient for biochemical analysis, including urinary organic acid identification and plasma amino acid analysis. Six cases of mucopolysaccharidosis, four multiple carboxylase deficiency, three 2-methylacetoacetyl CoA thiolase deficiency, two methymalonic aciduria, one glutaric aciduria type I, one glutaric aciduria type II, one a-oxoglutaric aciduria, and one case of orotic aciduria were detected...
November 12, 1997: American Journal of Medical Genetics
R G Chen, D L Qian, D Guo
No abstract text is available yet for this article.
June 1986: Chinese Medical Journal
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