肾病性胱氨酸病
Nephropathic cystinosis.
作者信息
Gahl W A
机构信息
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
出版信息
Pediatr Rev. 1997 Sep;18(9):302-4. doi: 10.1542/pir.18-9-302.
PMID:9286148
Abstract
Nephropathic cystinosis is one of the only lysosomal storage diseases for which there is an effective therapy against the basic, pathologic process-cystine accumulation. Early diagnosis and therapy are critical to optimize the prognosis.
摘要
肾性胱氨酸病是仅有的几种溶酶体贮积病之一，针对其基本病理过程——胱氨酸蓄积，存在有效的治疗方法。早期诊断和治疗对于优化预后至关重要。
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