Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation

Eur J Hum Genet. 2016 Jul;24(7). doi: 10.1038/ejhg.2015.248. Epub 2015 Nov 18.

Authors

Jaak Jaeken¹, Dirk J Lefeber², Gert Matthijs³

Affiliations

¹ Centre for Metabolic Disease, University Hospital Gasthuisberg, Leuven, Belgium.
² Department of Neurology, Translational Metabolic Laboratory, Radboudumc, Nijmegen, The Netherlands.
³ Centre for Human Genetics, KULeuven, Leuven, Belgium.

No abstract available

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Congenital Disorders of Glycosylation / diagnosis
Congenital Disorders of Glycosylation / epidemiology
Congenital Disorders of Glycosylation / genetics*
Congenital Disorders of Glycosylation / metabolism*
Humans
Mannosidases / metabolism*

Substances

Mannosidases