Combined paediatric liver-kidney transplantation: analysis of our experience [PDF]
, 2014 Thesis (M.Med.(General Surgery)--University of the Witwatersrand, Faculty of Health Sciences, 2014.Background. Renal insufficiency is increasingly common in end-stage liver disease and allocation of livers to this category of patient has escalated.
Strobele, Bernd
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Molecular based newborn screening in Germany: Follow-up for cystinosis
Molecular Genetics and Metabolism Reports, 2019 Background: Newborn screening (NBS) programs for treatable metabolic disorders have been enormously successful, but molecular-based screening has not been broadly implemented so far.
Katharina Hohenfellner +12 more
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Cystine storage in cultured myotubes from patients with nephropathic cystinosis [PDF]
, 1987 G. S. Harper +4 more
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CENTRAL NERVOUS SYSTEM CYSTINE STORAGE IN CYSTINOSIS [PDF]
, 1987 Adam J. Jonas +3 more
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Clearance of corneal crystals in nephropathic cystinosis by topical cysteamine 0.5%. [PDF]
, 1991 Nicholas P. Jones +2 more
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Outcome after renal transplantation. Part I: Intellectual and motor performance [PDF]
, 2018 Comprehensive information on neurodevelopmental outcome in children and adolescents with chronic kidney disease is still limited. Intellectual performance (IP) and motor performance (MP) were systematically assessed in 27 patients at a median age of 14 ...
Falger, Jutta +5 more
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Muscle Carnitine Repletion by Long-Term Carnitine Supplementation in Nephropathic Cystinosis [PDF]
, 1993 William A. Gahl +5 more
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Effects of oral phosphocysteamine and rectal cysteamine in cystinosis. [PDF]
, 1991 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]
, 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.
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