Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)

Authors: Carchon H.1; Van Schaftingen E.; Matthijs G.; Jaeken J.

Source: Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease, Volume 1455, Number 2, 8 October 1999 , pp. 155-165(11)

Publisher: Elsevier

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Keywords: Carbohydrate-deficient glycoprotein syndrome; Glycoprotein; N-Glycosylation; Serum transferrin; Phosphomannomutase deficiency

Language: English

Document Type: Review article

DOI: 10.1016/S0925-4439(99)00073-3

Affiliations: 1: aCenter for Metabolic Disease, Campus Gasthuisberg, O&N, University of Leuven, Herestraat 49, B-3000, Leuven, Belgium

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