Maternal phenylketomuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

被引：3

作者：

Corsello, G

Bosco, P

Calì, F

Cammarata, GM

Ciaccio, M

Piccione, M

Romano, V

机构：

[1] IRCCS, Ist Ric Ritardo Mentale & Involuz Cerebrale, OASI Maria SS, Mol Genet Lab, I-94018 Troina, EN, Italy

[2] Univ Palermo, Ist Chim Biol, Palermo, Italy

[3] Univ Palermo, Cattedra Patol Neonatale, Ist Materno Infantile, Palermo, Italy

[4] IRCCS, Ist Ric Ritardo Mentale & Involuz Cerebrale, Serv Pediat, Troina, Italy

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1999年 / 158卷 / 01期

关键词：

D O I：

10.1007/s004310051018

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：83 / 84

页数：2

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