Dorotea Ninković

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Congenital disorders of glycosylation are rapidly growing group of inborn errors of metabolism caused by defects in the biosynthesis of glycoproteins. Primary disorders are due to enzyme deficiencies, resulting in defects of assembly, transfer or processing of carbohydrate side chains, leading to incomplete glycosylation of plasma proteins. They comprise(More)
Hyperinsulinism-hyperammonemia (HI/HA) syndrome is a rare autosomal dominant disease characterized by recurrent hypoglycemia and persistent mild elevation of plasma ammonia. HI/HA syndrome is one of the more common forms of congenital hyperinsulinism (CHI), caused by activating mutations within the GLUD1 gene that encodes the mitochondrial enzyme glutamate(More)
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