Article
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
BMC pediatrics - 7 Jan 2021
Tim-Aroon Thipwimol, Wichajarn Khunton, Katanyuwong Kamornwan, Tanpaiboon Pranoot, Vatanavicharn Nithiwat, Sakpichaisakul Kullasate, Kongkrapan Arthaporn, Eu-Ahsunthornwattana Jakris, Thongpradit Supranee, Moolsuwan Kanya, Satproedprai Nusara, Mahasirimongkol Surakameth, Lerksuthirat Tassanee, Suktitipat Bhoom, Jinawath Natini, Wattanasirichaigoon Duangrurdee
Abstract excerpt
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 study describes clinical features, biochemical, and genetic defects among Thai patients with infantile SD during 2008-2019....
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