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Paper Details

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Am J Hum Genet
196
2015
-1,4-galactosyltransferase, CDG, Disorder of Manganese Transport and Glycosylation, Gly204Cys, Gly38Arg, Impaired galactosylation, Manganese, SLC39A8, SLC39A8 Deficiency, SLC39A8 deficiency, Val33Met, c, c., c.1004G>C, c.1019T, c.1019T>A, c.112G>C, c.610G, c.610G>T, c.97G>A, carbohydrate, child, cranial asymmetry, deformed skull, dysproportionate dwarfism, galactose, hearing loss, hypsarrhythmia, infantile spasms, inherited glycosylation disorders, manganese, maternal allele, p.Gly204Cys, p.Gly38Arg, p.Ile340Asn, p.Ser335Thr, p.Val33Met, psychomotor retardation, seizures, short limbs, trace element deficiency, transferrin, type II congenital disorder of glycosylation
Author NameAffiliation
Julien H ParkUniversitatsklinikum Munster
Janine ReunertUniversitatsklinikum Munster
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Chandree L BeaulieuChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa
Saskia Biskup
Heymut OmranUniversitatsklinikum Munster
Yoshinao WadaOsaka Medical Center and Research Institute for Maternal and Child Health
Daniel W NebertCincinnati Children's Hospital, University of Cincinnati College of Medicine
Thorsten MarquardtUniversitatsklinikum Munster
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