Clinical myopathy in patients with nephropathic cystinosis-Reference-Cited by-同舟云学术

Clinical myopathy in patients with nephropathic cystinosis

Published:2019-10-24 Issue:1 Volume:61 Page:74-80
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Sadjadi Reza¹^ORCID,Sullivan Stacey²,Grant Natalie¹,Thomas Susan E.³,Doyle Maya⁴,Hammond Colleen⁵,Duong Rachel¹,Corre Camille¹,David William²,Eichler Florian¹

Affiliation:

1. Center for Rare Neurological Diseases, Department of Neurology Massachusetts General Hospital Massachusetts

2. Department of Neurology Massachusetts General Hospital Boston Massachusetts

3. Division of Pediatric Nephrology, Department of Pediatrics and Communicable Diseases University of Michigan School of Medicine Ann Arbor Michigan

4. Department of Social Work, School of Health Sciences Quinnipiac University Hamden Connecticut

5. Cystinosis Adult Care Excellence Initiative Reading Massachusetts

Funder

Cystinosis Foundation

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mus.26726

Reference50 articles.

1. Neurobehavioral consequences of a genetic metabolic disorder: visual processing deficits in infantile nephropathic cystinosis;Ballantyne AO;Neuropsychiatry Neuropsychol Behav Neurol.,2000

2. Identification of 14 novelCTNS mutations and characterization of seven splice site mutations associated with cystinosis

3. The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion

4. Cystine Transport Is Defective in Isolated Leukocyte Lysosomes from Patients with Cystinosis

5. ATP‐dependent lysosomal cystine efflux is defective in cystinosis;Jonas AJ;J Biol Chem.,1982

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