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

Thipwimol Tim-AroonKhunton WichajarnKamornwan KatanyuwongPranoot TanpaiboonNithiwat VatanavicharnKullasate SakpichaisakulArthaporn KongkrapanJakris Eu-AhsunthornwattanaSupranee ThongpraditKanya MoolsuwanNusara SatproedpraiSurakameth MahasirimongkolTassanee LerksuthiratBhoom SuktitipatNatini JinawathDuangrurdee Wattanasirichaigoon

Published in: BMC pediatrics (2021)

The study suggests that SD likely represents the most common subtype of rare infantile GM2 gangliosidosis identified among Thai patients. We firstly described a potential common variant in HEXB in Thai patients with infantile onset SD. The data can aid a rapid molecular confirmation of infantile SD starting with the hotspot variant and the use of expanded carrier testing.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
machine learning
big data
patient reported