Results 101 to 110 of about 1,339 (134)

Multimodal imaging of infantile nephropathic cystinosis

, 2021
Cystinosis is a lysosomal storage disorder characterized by cystine crystal accumulation in different parts of body including the eyes. The purpose of this article was to describe different ophthalmological abnormalities in cystinosis using multimodal ...
Krishna Kanta Roy, Parveen Sen, M. Lakshmipathy, Raj S Paul   +3 more
openalex   +2 more sources

The Importance of the Early Diagnosis of Infantile Nephropathic Cystinosis: A Case Report

Klinische Pädiatrie, 2020
Cystinosis is a rare autosomal recessive lyso­ somal storage disease characterized by de­ fective transport of the aminoacid cystine across the lysosomal membrane leading to lysosomal accumulation of cystine in many organs, mainly kidneys and eyes ...
Emine Polat, Emine Gülşah Torun, Bilge Akkaya   +2 more
openalex   +2 more sources

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Corneal Manifestation in Patients with Infantile Nephropathic Cystinosis

Klinische Monatsblätter für Augenheilkunde, 2022
Nephropathic cystinosis is a rare autosomal recessive disease caused by mutations in the CTNS gene. This causes dysfunction of cystinosin, a protein that transports cystine out of lysosomes, causing cystine crystals to accumulate in cells in most organ ...
F. Kruse, L. Keidel, S. Priglinger, N. Luft, Claudia S Priglinger   +4 more
semanticscholar   +1 more source

Posterior Segment Involvement in Infantile Nephropathic Cystinosis – A Review

Klinische Monatsblätter für Augenheilkunde, 2022
Cystinosis is a rare lysosomal storage disease with a prevalence of 1 : 100 000 – 1 : 200 000 cases. It is caused by biallelic mutations in the CTNS gene, which encodes cystinosin, that transport cystine out of the lysosomes.
L. Keidel, B. Schworm, Katharina Hohenfellner, F. Kruse, S. Priglinger, N. Luft, Claudia S Priglinger   +6 more
semanticscholar   +1 more source

Infantile nephropathic cystinosis: Clinical features and outcome

, 2020
Background: Nephropathic infantile cystinosis, the most common cause of renal Fanconi syndrome, presents in early infancy with impaired growth, polyuria and polydipsia, and progresses to end stage renal disease during the first decade. Diagnosis is based
S. Raut, P. Khandelwal, A. Sinha, Ritu Thakur, Mamta Puraswani, T. Velpandian, P. Hari, A. Bagga   +7 more
semanticscholar   +1 more source

Nephropathic infantile cystinosis in an 8-year-old girl: First case report from Bangladesh

Paediatric Nephrology Journal of Bangladesh, 2021
Nephropathic infantile cystinosis is a rare congenital metabolic disorder with an autosomal recessive penetrance in the family, which causes the accumulation of cystine in the lysosomes of different organs of the body.
Mohamed Abdul Qader, M. Patwary, Taslima Chowdhury, N. Choudhury   +3 more
semanticscholar   +1 more source

Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis

Pediatric nephrology (Berlin, West), 2022
M. El Younsi, M. Trabelsi, Sandra Ben Youssef, I. Ouertani, Y. Hammi, Ahlem Achour, F. Maazoul, M. Kharrat, T. Gargah, R. M’rad   +9 more
semanticscholar   +1 more source

Therapeutic Problems and Pregnancy in a Patient With Infantile Nephropathic Cystinosis: A Case Report.

Transplantation Proceedings, 2019
K. Kuczborska, J. Gozdowska, D. Lewandowska, R. Grenda, Z. Gałązka, S. Nazarewski, M. Durlik   +6 more
semanticscholar   +1 more source

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives

Nature Reviews Nephrology, 2016
Stephanie Cherqui
exaly  

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults

Kidney International, 2012
Chris Ottolenghi, Pierre Cochat
exaly