Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Ulrike H. Schueler Hoffman"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100914- (2022)
Fabry disease is an X-linked glycolipid storage disorder caused by mutations in the GLA gene which result in a deficiency in the lysosomal enzyme alpha galactosidase A (AGA). As a result, the glycolipid substrate Gb3 accumulates in critical tissues a
Externí odkaz:
https://doaj.org/article/e33c1150465e45a3b693bb0ea07657a2
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100871- (2022)
Fabry disease is a glycosphingolipid storage disorder that is caused by a genetic deficiency of the lysosomal enzyme alpha-galactosidase A (AGA, EC 3.2.1.22). As a result, the glycolipid substrate, globotriaosylceramide (Gb3) accumulates in various c
Externí odkaz:
https://doaj.org/article/3dea2c5c532f451fa37134d80eb86e5a
Publikováno v:
Molecular genetics and metabolism reports. 31
Fabry disease is a glycosphingolipid storage disorder that is caused by a genetic deficiency of the lysosomal enzyme alpha-galactosidase A (AGA, EC 3.2.1.22). As a result, the glycolipid substrate, globotriaosylceramide (Gb3) accumulates in various c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8abe6f3e10a307374c5e68cca22f66ab
https://pubmed.ncbi.nlm.nih.gov/35782611
https://pubmed.ncbi.nlm.nih.gov/35782611