Diagnostics and treatment of ocular complications in infantile nephropathic cystinosis
, 2021 Małgorzata Kowalczyk +3 more
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Clinical perspectives on myopathic complications in nephropathic cystinosis
Journal of Rare DiseasesPatients with nephropathic cystinosis are now living into their 50s and beyond thanks to advances in medical management. Due to this shift in the natural history of the disease, monitoring for and addressing extrarenal manifestations, including myopathy,
Reza Sadjadi +2 more
doaj +1 more source
Worldwide view of nephropathic cystinosis: results from a survey from 30 countries [PDF]
, 2017 Aurélia Bertholet‐Thomas +18 more
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Recent advances in the treatment of cystinosis
, 1995 Jerry A. Schneider +8 more
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Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis [PDF]
, 2021 Leonie Keidel +5 more
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A case of corneal cystinosis in a patient with rickets and chronic renal failure
, 2015 SungKun Chung +2 more
openalex +1 more source
Is genetic rescue of cystinosis an achievable treatment goal? [PDF]
, 2013 Stéphanie Cherqui
openalex +1 more source
OR6-005 – Cystine crystals activate inflammasomes [PDF]
, 2013 F De Benedetti +5 more
core +1 more source
A patient with cystinosis presenting transient features of Bartter syndrome
The Turkish Journal of Pediatrics, 2006 A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries.
Bilal Yildiz +5 more
doaj
Chest configuration in children and adolescents with infantile nephropathic cystinosis compared with other chronic kidney disease entities and its clinical determinants [PDF]
, 2023 Sophia Müller +18 more
openalex +1 more source