Cystine storage in cultured myotubes from patients with nephropathic cystinosis [PDF]
G. S. Harper+4 more
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Muscle Carnitine Repletion by Long-Term Carnitine Supplementation in Nephropathic Cystinosis [PDF]
William A. Gahl+5 more
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Effects of oral phosphocysteamine and rectal cysteamine in cystinosis. [PDF]
William G. van’t Hoff+6 more
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Does renal GCDH expression contribute to the explanation of the two excretor types in glutaric aciduria type I? [PDF]
This Master Thesis was carried out at the University of Lausanne and is part of the master's curriculum in the School of Medicine(1). All manipulations have been done at the laboratory of the "Centre des Maladies Moléculaires" (CMM) which is part of the "
PARATA, G.
core
Clearance of corneal crystals in nephropathic cystinosis by topical cysteamine 0.5%. [PDF]
Nicholas P. Jones+2 more
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GROWTH RETARDATION AND URINARY LOSS OF GROWTH HORMONE IN CYSTINOSIS [PDF]
Niels Thomas Hertel+3 more
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Rehabilitation of young adults during renal replacement therapy in Europe: The presence of disabilities [PDF]
The aim of this study was to analyse rehabilitation during RRT in 617 young adults from different European countries who started dialysis or transplantation before the age of 15 years. The data were derived from the EDTA Registry patient data files and a
Broyer, M.+9 more
core
Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay [PDF]
Lionel Forestier+8 more
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