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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
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Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
Cyril Mignot
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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
Lisa Riley
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Minal Menezes
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Pascale de Lonlay
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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
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et al.
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inserm-00921185v1
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