The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

Abstract

Congenital disorders of glycosylation are a clinically and genetically heterogeneous group of disorders resulting from abnormal glycosylation of various glycoconjugates. The first description of congenital disorders of glycosylation was published in the early 80s and once screening tests for glycosylation disorders (CDGs) became readily available, CDG-Ia… (More)
DOI: 10.1016/j.bbadis.2009.01.003

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