Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity

Authors: Freeze H.H.¹; Aebi M.

Source: Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease, Volume 1455, Number 2, 8 October 1999 , pp. 167-178(12)

Publisher: Elsevier

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Keywords: Carbohydrate deficient glycoprotein syndrome; Mannose; Therapy; Phosphomannose isomerase; alpha -Glucosyltransferase; Metabolic disorder

Language: English

Document Type: Review article

DOI: 10.1016/S0925-4439(99)00072-1

Affiliations: 1: aThe Burnham Institute, 10901 North Torrey Pines Road, La Jolla, CA, USA

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