Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients-Reference-Cited by-同舟云学术

Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients

Published:2022-01-13 Issue: Volume: Page:
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Vill Katharina¹,Müller‐Felber Wolfgang¹,Landfarth Timotheus²,Köppl Christian³,Herzig Nadine⁴,Knerr Christine³,Holla Heike⁵,Steidle Günther³,Harms Erik⁶,Hohenfellner Katharina⁵,

Affiliation:

1. Department of Pediatric Neurology and Developmental Medicine Dr. von Hauner Children's Hospital, LMU – University of Munich Munich Germany

2. Institute for Medical Information Processing, Biometry, and Epidemiology LMU – University of Munich Munich Germany

3. Kliniken Südostbayern, SPZ Traunstein Germany

4. Schoen Clinic Munich Harlaching, Specialist Centre for Paediatric and Neuro‐Orthopaedics Munich Germany

5. Department of Pediatric Nephrology Children's Hospital Rosenheim Rosenheim Germany

6. Formally Chairman (retired) of the Department of Pediatrics University of Muenster Münster Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12464

Reference25 articles.

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

2. Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter

3. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

4. Complications of nephropathic cystinosis after renal failure

5. Cystinosis

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