Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
复制标题
美国单卵双胞胎女性同胞中 Salla 表型的唾液酸贮积病。
DOI：
10.1002/ajmg.a.10246
复制
发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Gahl,WilliamA
中科院分区：
文献类型：
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作者：
Martin,RickA;Slaugh,Rachel;Natowicz,Marvin;Pearlman,Kayla;Orvisky,Eduard;Krasnewich,Donna;Kleta,Robert;Huizing,Marjan;Gahl,WilliamA
Salla disease, one of three disease phenotypes that manifest increased urinary excretion of unconjugated sialic acid, is an autosomal recessive condition caused by a mutation inSLC17A5. This gene encodes sialin, a lysosomal membrane transporter for sialic acid. Salla disease is rare outside of individuals of Finnish ancestry. In this report we describe the disorder in non‐Finnish monozygous twin siblings, the first reported American cases of Salla disease. © 2003 Wiley‐Liss, Inc.
