Results 131 to 140 of about 9,272 (239)

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

open access: yesBMC Nephrology, 2019
Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh   +7 more
doaj   +1 more source

The in Vivo Use of Dithiothreitol in Cystinosis [PDF]

open access: bronze, 1977
Denise Depape-Brigger   +4 more
openalex   +1 more source

LATE-ONSET NEPHROPATHIC CYSTINOSIS WITH MASSIVE PROTEINURIA. A STUDY OF THE RENAL LESIONS AND TUBULAR FUNCTIONS [PDF]

open access: bronze, 1974
Rufino C. Pabico   +5 more
openalex   +1 more source

Urinary proteome pattern in children with renal Fanconi syndrome [PDF]

open access: yes, 2017
Background. The renal Fanconi syndrome (FS) is characterized by renal glucosuria, loss of electrolytes, bicarbonate and lactate, generalized hyperaminoaciduria and low-molecular-weight proteinuria.
Drube, Jens   +7 more
core  

Cerebral atrophy and nephropathic cystinosis. [PDF]

open access: bronze, 1986
Pierre Cochat   +4 more
openalex   +1 more source

Thermo-responsive and mucoadhesive gels for the treatment of cystinosis.

open access: yesBiomaterials Advances, 2023
Mitchell Ross   +6 more
semanticscholar   +1 more source

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