CTNS Mutations in African American Patients with Cystinosis-Reference-Cited by-同舟云学术

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CTNS Mutations in African American Patients with Cystinosis

Published:2001-11 Issue:3 Volume:74 Page:332-337
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Kleta Robert,Anikster Yair,Lucero Cynthia,Shotelersuk Vorasuk,Huizing Marjan,Bernardini Isa,Park Margaret,Thoene Jess,Schneider Jerry,Gahl William A.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference36 articles.

1. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis;Gahl;Science,1982

2. Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes;Gahl;J Biol Chem,1982

3. ATP-dependent lysosomal cystine efflux is defective in cystinosis;Jonas;J Biol Chem,1982

4. Cystinosis: A disorder of lysosomal membrane transport;Gahl,2001

5. Cystinosis coming of age;Gahl;Adv Pediatr,1986

Cited by 32 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Landscape of Nephropathic Cystinosis in Russian Children;Frontiers in Genetics;2022-04-28

2. Inherited Metabolic Disease and the Kidney;Primer on Nephrology;2022

3. Ocular manifestations of intermediate cystinosis: To treat or not to treat?;European Journal of Ophthalmology;2019-05-10

4. A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East;Frontiers in Pediatrics;2019-03-21

5. A case of ocular cystinosis associated with two potentially severe CTNS mutations;Ophthalmic Genetics;2019-03-04

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