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

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 des...

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Detaylı Bibliyografya
Yayımlandı:BMC Pediatr
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2021
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7789739/
https://ncbi.nlm.nih.gov/pubmed/33407268
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-020-02481-3
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