A patient with cystinosis presenting transient features of Bartter syndrome
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
Małgorzata Kowalczyk +3 more
openalex +2 more sources
Worldwide view of nephropathic cystinosis: results from a survey from 30 countries [PDF]
Aurélia Bertholet‐Thomas +18 more
openalex +1 more source
Recent advances in the treatment of cystinosis
Jerry A. Schneider +8 more
openalex +2 more sources
Cystinosis and Cellular Energy Failure: Mitochondria at the Crossroads [PDF]
Francesco Bellomo, Domenico De Rasmo
openalex +1 more source
PHARMACOLOGY OF PANTETHINE IN NEPHROPATHIC CYSTINOSIS [PDF]
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]
Leonie Keidel +5 more
openalex +1 more source
Improving Lifelong Comprehensive Care Coordination in Nephropathic Cystinosis: Multidisciplinary Perspectives. [PDF]
Golestaneh L +11 more
europepmc +1 more source
Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis [PDF]
Marianna Nicoletta Rossi +12 more
openalex +1 more source
Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation [PDF]
Kozina A. Anastasiya +10 more
openalex +1 more source

