Genetic and neurological evaluation of untreated and late-treated patients with phenylketonuria.
作者信息
Ozalp I, Coşkun T, Ozgüç M, Tokatli A, Yalaz K, Vanli L, Yilmaz E, Erbay A
机构信息
Department of Pediatrics and Medical Biology, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
出版信息
J Inherit Metab Dis. 1994;17(3):371. doi: 10.1007/BF00711834.
PMID:7807957
Abstract
摘要
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本文引用的文献
1
Mutation analysis in Turkish phenylketonuria patients.土耳其苯丙酮尿症患者的突变分析
J Med Genet. 1993 Feb;30(2):129-30. doi: 10.1136/jmg.30.2.129.
2
Molecular basis of phenotypic heterogeneity in phenylketonuria.苯丙酮尿症表型异质性的分子基础。
N Engl J Med. 1991 May 2;324(18):1232-8. doi: 10.1056/NEJM199105023241802.
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