Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Iskren Menkovic"'
Autor:
Monika Williams, Iskren Menkovic, Pamela Reitnauer, Eileen Gilbert, Dwight Koeberl, Sarah P. Young, Ashlee R. Stiles
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101062- (2024)
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase (mHS) deficiency is an autosomal recessive disorder of ketone body synthesis caused by biallelic pathogenic variants in HMGCS2. Clinical symptoms are precipitated by prolonged fasting an
Externí odkaz:
https://doaj.org/article/9318d626e74e4516b096a145643dc2c0
Autor:
Iskren Menkovic, James Beasley, Haoyue Zhang, Billie Lianoglou, Jingwei Yu, Ashlee Stiles, Paul Harmatz, Sarah Young
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100037- (2023)
Externí odkaz:
https://doaj.org/article/1146f49d78524f3aad5ac13a3180b0cb
Autor:
Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, Filipa Curado, Peter Bauer, François E. Mercier, Christiane Auray-Blais
Publikováno v:
Diagnostics, Vol 12, Iss 6, p 1414 (2022)
Gaucher disease is a rare inherited disorder caused by a deficiency of the lysosomal acid beta-glucocerebrosidase enzyme. Metabolomic studies by our group targeted several new potential urinary biomarkers. Apart from lyso-Gb1, these studies highlight
Externí odkaz:
https://doaj.org/article/8b5feada042e4ef6bacaa0d1c66bfb53
Autor:
Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, François E. Mercier, Georges-Étienne Rivard, Christiane Auray-Blais
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 21, p 7869 (2020)
Gaucher disease (GD) is a rare autosomal recessive multisystemic lysosomal storage disorder presenting a marked phenotypic and genotypic variability. GD is caused by a deficiency in the glucocerebrosidase enzyme. The diagnosis of GD remains challengi
Externí odkaz:
https://doaj.org/article/76b6a2170cb14f26a8851f5679710132
Autor:
Michel Boutin, Pamela Lavoie, Iskren Menkovic, Amanda Toupin, Mona Abaoui, Maha Elidrissi-Elawad, Marie-Françoise Arthus, Carole Fortier, Claudia Ménard, Bruno Maranda, Daniel G. Bichet, Christiane Auray-Blais
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 17, p 6114 (2020)
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene encoding the α-galactosidase A enzyme. This enzyme cleaves the last sugar unit of glycosphingolipids, including globotriaosylceramide (Gb3), globotriaosylsph
Externí odkaz:
https://doaj.org/article/fc8aa000ac284c6f90cac01d6cf85e64
Publikováno v:
Diagnostics, Vol 9, Iss 4, p 195 (2019)
Mucopolysaccharidoses (MPSs) are lysosomal storage disorders caused by deficiencies of enzymes involved in the catabolism of glycosaminoglycans (GAGs). Various treatments such as enzyme replacement therapy and/or hematopoietic stem cell transplant ar
Externí odkaz:
https://doaj.org/article/37b2d4d731224bffa39cb4853aa0fa68
Publikováno v:
Current Protocols. 3
Autor:
Marcel A Kelkel, Michel Boutin, Filipa Curado, Peter Bauer, Éliane Beauregard-Lacroix, François E Mercier, Bruno Maranda, Iskren Menkovic, Tristan Martineau, Christiane Auray-Blais
Publikováno v:
Bioanalysis. 14:289-306
Background: Sphingolipidoses are caused by a defective sphingolipid catabolism, leading to an accumulation of several glycolipid species in tissues and resulting in neurotoxicity and severe systemic manifestations. Methods & results: Urine samples fr
Publikováno v:
Molecular Genetics and Metabolism. 138:107015
Autor:
Iskren Menkovic, Michel Boutin, Abdulfatah Alayoubi, Filipa Curado, Peter Bauer, François E. Mercier, Christiane Auray-Blais
Publikováno v:
Journal of proteome research. 21(5)
Gaucher disease (GD) is a lysosomal storage disorder resulting from a biallelic mutation in the gene