Results 101 to 110 of about 7,589 (245)

Cystine storage in cultured myotubes from patients with nephropathic cystinosis [PDF]

open access: green, 1987
G. S. Harper   +4 more
openalex   +1 more source

Cystinosis [PDF]

open access: yesArchives of Disease in Childhood, 1952
openaire   +2 more sources

Muscle Carnitine Repletion by Long-Term Carnitine Supplementation in Nephropathic Cystinosis [PDF]

open access: bronze, 1993
William A. Gahl   +5 more
openalex   +1 more source

Effects of oral phosphocysteamine and rectal cysteamine in cystinosis. [PDF]

open access: bronze, 1991
William G. van’t Hoff   +6 more
openalex   +1 more source

Does renal GCDH expression contribute to the explanation of the two excretor types in glutaric aciduria type I? [PDF]

open access: yes, 2015
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  

GROWTH RETARDATION AND URINARY LOSS OF GROWTH HORMONE IN CYSTINOSIS [PDF]

open access: bronze, 1993
Niels Thomas Hertel   +3 more
openalex   +1 more source

Rehabilitation of young adults during renal replacement therapy in Europe: The presence of disabilities [PDF]

open access: yes, 2017
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]

open access: bronze, 1999
Lionel Forestier   +8 more
openalex   +1 more source

Home - About - Disclaimer - Privacy