Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia
- 1 February 2003
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 25 (8), 635-646
- https://doi.org/10.1023/a:1022825113506
Abstract
Summary: We present our experience with the diagnosis of 26 patients (19 families) with congenital disorders of glycosylation classified as type Ia due toPMM deficiency. In all but one of these CDG I...Keywords
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