Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

• Autori principali: Thipwimol Tim-Aroon (Autore), Khunton Wichajarn (Autore), Kamornwan Katanyuwong (Autore), Pranoot Tanpaiboon (Autore), Nithiwat Vatanavicharn (Autore), Kullasate Sakpichaisakul (Autore), Arthaporn Kongkrapan (Autore), Jakris Eu-ahsunthornwattana (Autore), Supranee Thongpradit (Autore), Kanya Moolsuwan (Autore), Nusara Satproedprai (Autore), Surakameth Mahasirimongkol (Autore), Tassanee Lerksuthirat (Autore), Bhoom Suktitipat (Autore), Natini Jinawath (Autore), Duangrurdee Wattanasirichaigoon (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2021-01-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract Background Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular in neuronal cells. The disorder is caused by deficiency of β-hexosaminidase B (HEX-B), due to pathogenic variant of human HEXB gene. Method This st...