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Congenital disorder of glycosylation type Ia in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation

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PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

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Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency

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Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes

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Journal of Inherited Metabolic Disease, Vol. 35, Iss. 1, 2012-01 ,pp. : 103-114

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