Background: Nephropathic cystinosis is a rare autosomal recessive disorder caused by
mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine …

Cystinosis is a rare, autosomal recessive, lysosomal storage disease caused by mutations in
the gene CTNS, leading to cystine accumulation in the lysosomes. While cysteamine lowers …

Background Cystinosis is an autosomal recessive disorder characterized by an
accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an …

Background The mutations responsible for cystinosis in South African patients are currently
unknown. A pertinent question is whether they are similar to those described elsewhere in …

Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in
the lysosomal‐membrane transport protein, cystinosin. It serves as a prototype for lysosomal …

目的探讨胱氨酸病的诊断. 方法回顾性分析1 例胱氨酸病患儿的临床, 生化和基因检测资料.
结果患儿, 女, 4 岁. 2 岁时出现畏光, 眼科检查发现角膜结晶, 3 岁发现双肾结石 …

Objective Nephropathic cystinosis is an autosomal recessive lysosomal storage disorder
that is characterised by the accumulation of the amino acid cystine in several body tissues …

Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome,
is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large …

Purpose In this report, we document the CTNS gene mutations of 28 Iranian patients with
nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive …

Background Cystinosis is a rare autosomal-recessive disorder caused by a defective
transport of cystine across the lysosomal membrane. Previous studies have mapped …