The Effect of a Continuous Intravenous Infusion of Inorganic Phosphate on the Rachitic Lesions in Cystinosis [PDF]
R Steendijk
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Transport of L-Cystine by Cultivated Skin Fibroblasts of Normal Subjects and Patients with Cystinosis [PDF]
Celia I. Kaye, Henry L. Nadler
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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]
Denise Depape-Brigger+4 more
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LATE-ONSET NEPHROPATHIC CYSTINOSIS WITH MASSIVE PROTEINURIA. A STUDY OF THE RENAL LESIONS AND TUBULAR FUNCTIONS [PDF]
Rufino C. Pabico+5 more
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CIRCADIAN PLASMA GH CONCENTRATIONS IN CHILDREN WITH PHENYLKETONURIA (PKU), HYPERPHENYLALANINEMIA (H), CYSTINOSIS (C) AND HOMOCYSTINURIA (HU) [PDF]
H Schedewie+3 more
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Urinary proteome pattern in children with renal Fanconi syndrome [PDF]
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]
Pierre Cochat+4 more
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Effect of indomethacin on clinical progress and renal function in cystinosis. [PDF]
G B Haycock+3 more
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Thermo-responsive and mucoadhesive gels for the treatment of cystinosis.
Mitchell Ross+6 more
semanticscholar +1 more source