Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

doi:10.1093/brain/awu019

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Article

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

Brain : a journal of neurology - 1 Apr 2014

Van Scherpenzeel Monique, Timal Sharita, Rymen Daisy, Hoischen Alexander, Wuhrer Manfred, Hipgrave-Ederveen Agnes, Grunewald Stephanie, Peanne Romain, Saada Ann, Edvardson Shimon, Grønborg Sabine, Ruijter George, Kattentidt-Mouravieva Anna, Brum Jaime Moritz, Freckmann Mary-Louise, Tomkins Susan, Jalan Anil, Prochazkova Dagmar, Ondruskova Nina, Hansikova Hana, Willemsen Michel A, Hensbergen Paul J, Matthijs Gert, Wevers Ron A, Veltman Joris A, Morava Eva, Lefeber Dirk J

Abstract excerpt

Congenital disorders of glycosylation comprise a group of genetic defects with a high frequency of intellectual disability, caused by deficient glycosylation of proteins and lipids. The molecular basis of the majority of the congenital disorders of glycosylation type I subtypes, localized in the cytosol and endoplasmic reticulum, has been solved. However, elucidation of causative genes for defective Golgi...

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PMID: 24566669
DOI: 10.1093/brain/awu019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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