Lee(Hsiu-Fen),Chi(Ching-Shiang),Tsai(Chi-Ren) Brain Dev 0000-00-00

...HEXB) activity. Two novel mutations of HEXB gene were identified. One of the mutations was a c.1538 T>C mutation, which ...

Abiri(Maryam),Talebi(Saeed),Uitto(Jouni),Y... J Pediatr Endocrinol Metab 0000-00-00

...HEXB gene. Genetic testing confirmed the clinical diagnosis of both diseases in both patients. To the best of our knowle...

Volf(Jiri),Polansky(Ondrej),Varmuzova(Karo... PLoS One 0000-00-00

...HEXB, ALDH2, ALDOB, CALB1 and TTR were expressed at lower levels following inoculation of microbiota. When chicks were g...

Karumuthil-Melethil(Subha),Nagabhushan Kal... Hum Gene Ther 0000-00-00

...HEXB) lead to Sandhoff disease (SD). The third form results from a deficiency of the GM2 activator protein (GM2AP), a su...