Results 91 to 100 of about 4,878 (206)

A patient with cystinosis presenting transient features of Bartter syndrome

open access: yesThe 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  

Diagnostics and treatment of ocular complications in infantile nephropathic cystinosis

open access: diamond, 2021
Małgorzata Kowalczyk   +3 more
openalex   +2 more sources

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries [PDF]

open access: gold, 2017
Aurélia Bertholet‐Thomas   +18 more
openalex   +1 more source

Recent advances in the treatment of cystinosis

open access: green, 1995
Jerry A. Schneider   +8 more
openalex   +2 more sources

PHARMACOLOGY OF PANTETHINE IN NEPHROPATHIC CYSTINOSIS [PDF]

open access: bronze, 1984
Carl T. Wittwer, Jess G. Thoene
openalex   +1 more source

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis [PDF]

open access: hybrid, 2021
Leonie Keidel   +5 more
openalex   +1 more source

Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives. [PDF]

open access: yesKidney Int Rep
Golestaneh L   +11 more
europepmc   +1 more source

Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis [PDF]

open access: gold
Marianna Nicoletta Rossi   +12 more
openalex   +1 more source

Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation [PDF]

open access: gold, 2018
Kozina A. Anastasiya   +10 more
openalex   +1 more source

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