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Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2018, Volume 124, Issue 4, pp. 230 - 237
Among the numerous congenital disorders of glycosylation concerning glycoproteins, only a single mutation in ganglioside biosynthesis had been reported until a... 
Glycosylation disorder | Mouse model | Ganglioside | Glycosyltransferase | Rare disease | MEDICINE, RESEARCH & EXPERIMENTAL | NERVOUS-SYSTEM | DEFECTS | HEREDITARY SPASTIC PARAPLEGIA | GENE KNOCKOUT | KNOCKOUT MICE | COMPLICATED FORM | DEGENERATION | LACKING COMPLEX GANGLIOSIDES | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | GLYCOPROTEIN | GM3 SYNTHASE DEFICIENCY
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1079 - 1087
Journal Article
Italian journal of pediatrics, ISSN 1720-8424, 11/2018, Volume 44, Issue Suppl 2, pp. 117 - 6
Mucopolysaccharidoses (MPS) are genetic, progressive, lysosomal storage disorders affecting virtually all organs and systems. The first MPS were clinically... 
ENZYME-REPLACEMENT THERAPY | HUNTER-SYNDROME | MORQUIO | BONE-MARROW-TRANSPLANTATION | HURLERS-DISEASE | FOLLOW-UP | PEDIATRICS | PATIENT | STEM-CELL TRANSPLANTATION | DEFICIENCY | FEATURES | Mucopolysaccharidoses - diagnosis | Mucopolysaccharidoses - therapy | Mucopolysaccharidoses - complications | Humans
Journal Article
GLYCOBIOLOGY, ISSN 0959-6658, 03/2019, Volume 29, Issue 3, pp. 229 - 241
ST3GAL5-CDG is a rare syndrome which is caused by variant GM3 synthases, the enzyme involved in the biosynthesis of a-b-c-series gangliosides. Here we report a... 
rare disease | COMPLEX GANGLIOSIDES | GENE KNOCKOUT | BIOCHEMISTRY & MOLECULAR BIOLOGY | EXHIBIT | glycosphingolipid | BETA-1,3-GALACTOSYLTRANSFERASE BETA-3GAL-T5 | ganglioside | congenital disorders of glycosylation | sialyltransferase | DEGENERATION | BIOSYNTHESIS | MICE | MUTATIONS | GANGLIOSIDE GM3 | EXPRESSION
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2017, Volume 12, Issue 1, pp. 112 - 9
Journal Article
Journal Article
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 482 - 495
Journal Article