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Informa Healthcare

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Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

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Glycine N-methyltransferase deficiency: A new patient with a novel mutation

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CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

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Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene

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