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Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium

Christelle Durrant , Jana I Fuehring , Alexandra Willemetz , Dominique Chrétien , Giusy Sala , et al.
International Journal of Molecular Sciences, 2020, 21 (6), pp.2028. ⟨10.3390/ijms21062028⟩
Journal articles pasteur-03198878v1
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Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.

Cyril Mignot , Emmanuelle Apartis , Alexandra Durr , Charles Marques Lourenço , Perrine Charles , et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.173. ⟨10.1186/1750-1172-8-173⟩
Journal articles inserm-00907850v1
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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Lisa Riley , Minal Menezes , Joëlle Rudinger-Thirion , Rachael Duff , Pascale de Lonlay , et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.193. ⟨10.1186/1750-1172-8-193⟩
Journal articles inserm-00921182v1
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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Lisa Riley , Minal Menezes , Joëlle Rudinger-Thirion , Rachael Duff , Pascale de Lonlay , et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.193. ⟨10.1186/1750-1172-8-193⟩
Journal articles inserm-00921185v1