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Molecular genetics and metabolism reports
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Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.
Molecular genetics and metabolism reports
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Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.
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Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
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Exome Sequencing and the Management of Neurometabolic Disorders.
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Structure-based mutagenic analysis of mechanism and substrate specificity in mammalian glycosyltransferases: porcine ST3Gal-I.
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Structure and mechanism of the lipooligosaccharide sialyltransferase from Neisseria meningitidis
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