Results 101 to 110 of about 1,402 (147)

Cortical impairment and reduced muscle mass in children and young adults with nephropathic cystinosis. [PDF]

J Bone Miner Res
Bechtold-Dalla Pozza S, Lemster S, Herzig N, Vill K, Dubinski I, Hohenfellner K, Interdisciplinary Cystinosis Clinic .   +6 more
europepmc   +1 more source

Let Food Be Thy Medicine: Potential of Dietary Management in Cystinosis.

J Am Soc Nephrol
Levtchenko E, Arcolino FO.
europepmc   +1 more source

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
semanticscholar   +4 more sources

PSYCHOSOCIAL AND INTELLECTUAL DEVELOPMENT IN 12 PATIENTS WITH INFANTILE NEPHROPATHIC CYSTINOSIS

Acta Paediatrica, 1982
ABSTRACT. The psychosocial and intellectual development of 12 children with infantile nephropathic cystinosis was investigated longitudinally by use of biographical data, long‐term behavioral observations and psychological assessment. Of the 12 patients, eleven suffered terminal renal failure and 7 of these were followed up after renal transplantation.
Georg Wolff, J. H. H. Ehrich, G. Offner, J. Brodehl   +3 more
semanticscholar   +4 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   +3 more sources

Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis

Pediatric Nephrology, 2022
Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African population. Here, we investigated twelve patients with nephropathic cystinosis belonging to eight Tunisian families
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   +3 more sources

Infantile nephropathic cystinosis: Clinical features and outcome

Asian Journal of Pediatric Nephrology, 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   +2 more sources