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Recurrence of Primary Sclerosing Cholangitis After Liver Transplant in Children: An International Observational Study.

Archive ouverte | Martinez, Mercedes | CCSD

International audience. Background and Aims Recurrent primary sclerosing cholangitis (rPSC) following liver transplant (LT) has a negative impact on graft and patient survival; little is known about risk factors for...

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Archive ouverte | Fukao, Toshiyuki | CCSD

International audience. Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inborn error of ketone body metabolism and causes episodic ketoacidosis. We report clinical and molecular analyses of 5 patient...

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Archive ouverte | Caciotti, Anna | CCSD

International audience. GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000- 1:200,000 liv...

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