Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency
Author:
Funder
National Institutes of Health
National Institute of General Medical Sciences
W. M. Keck Foundation
Publisher
Elsevier BV
Subject
Spectroscopy
Reference39 articles.
1. A mutation in a ganglioside biosynthetic enzyme, st3gal5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation;Boccuto;Hum. Mol. Genet.,2014
2. Refractory epilepsy and mitochondrial dysfunction due to gm3 synthase deficiency;Fragaki;Eur. J. Hum. Genet.,2013
3. Gm3 synthase deficiency due to st3gal5 variants in two korean female siblings: Masquerading as rett syndrome-like phenotype;Lee;Am. J. Med. Genet. A,2016
4. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of gm3 synthase;Simpson;Nat. Genet.,2004
5. Cutaneous dyspigmentation in patients with ganglioside gm3 synthase deficiency;Wang;Am. J. Med. Genet. A,2013
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