Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Christine DeAntonis"'
Autor:
Ding An, Andrea Frassetto, Eric Jacquinet, Marianne Eybye, Joseph Milano, Christine DeAntonis, Vi Nguyen, Rodrigo Laureano, Jaclyn Milton, Staci Sabnis, Christine M. Lukacs, Lin T. Guey
Publikováno v:
EBioMedicine, Vol 45, Iss , Pp 519-528 (2019)
Background: Isolated methylmalonic acidemia/aciduria (MMA) is an ultra-rare, serious, inherited metabolic disorder with significant morbidity and mortality. Exogenously delivered mRNA encoding human methylmalonyl-CoA mutase (hMUT), the enzyme most fr
Externí odkaz:
https://doaj.org/article/12606a1093fa4685ab53d409e920be77
Autor:
Xue-Jun Zhao, Ai-Walid Mohsen, Stephanie Mihalik, Keaton Solo, Shakuntala Basu, Ermal Aliu, Huifang Shi, Catherine Kochersberger, Anuradha Karunanidhi, Clinton Van’t Land, Kimberly A Coughlan, Summar Siddiqui, Lisa M Rice, Shawn Hillier, Eleonora Guadagnin, Christine DeAntonis, Paloma H Giangrande, Paolo G V Martini, Jerry Vockley
Publikováno v:
Human Molecular Genetics.
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid β-oxidation (FAO) in humans. Patients exhibit clinical episodes often associated with fasting. Symptoms include hypoketotic hypog
Autor:
Steven##Fortucci, Hoor##Al Jandal, Paolo Martini, Kimberly Ann Coughlan, Andrea Frassetto, Rajanikanth#J#Maganti, Paloma H. Giangrande, Christine DeAntonis, meredith##Wolfrom, Shawn#M#Hillier, Anne-Renee##Graham, Sue Jean Hong
Publikováno v:
Journal of Biochemical and Clinical Genetics. :28-39
Background: Primary Hyperoxaluria Type 1 (PH1) is an inborn error of metabolism caused by mutations in the AGXT gene, which encodes for the hepatocyte-specific enzyme alanine: glyoxylate aminotransferase (AGT). AGT catalyzes the conversion of glyoxyl
Autor:
Eric Jacquinet, Vi Nguyen, Ding An, Andrea Frassetto, Jaclyn Milton, Joseph Milano, Christine DeAntonis, Staci Sabnis, Christine Lukacs, Lin T. Guey, Marianne Eybye, Rodrigo Laureano
Publikováno v:
EBioMedicine
Background Isolated methylmalonic acidemia/aciduria (MMA) is an ultra-rare, serious, inherited metabolic disorder with significant morbidity and mortality. Exogenously delivered mRNA encoding human methylmalonyl-CoA mutase (hMUT), the enzyme most fre