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hexosaminidase A and B deficiency disease, Sandhoff disease相关文献:
Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease).
PMID:
Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).
PMID:
[Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review].
PMID:
Sandhoff Disease.
Xiao C, Tifft C, Toro C.
2022 Apr 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:35420740
Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.
Tim-Aroon T, Wichajarn K, Katanyuwong K, Tanpaiboon P, Vatanavicharn N, Sakpichaisakul K, Kongkrapan A, Eu-Ahsunthornwattana J, Thongpradit S, Moolsuwan K, Satproedprai N, Mahasirimongkol S, Lerksuthirat T, Suktitipat B, Jinawath N, Wattanasirichaigoon D.
BMC Pediatr. 2021 Jan 7;21(1):22. doi: 10.1186/s12887-020-02481-3.
PMID:33407268
Sandhoff disease in the elderly: a case study.
García Morales L, Mustelier Bécquer RG, Pérez Joglar L, Zaldívar Vaillant T.
Amyotroph Lateral Scler Frontotemporal Degener. 2022 Feb;23(1-2):137-138. doi: 10.1080/21678421.2021.1892146. Epub 2021 Mar 2.
PMID:33650927
Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant.
Beecher G, Liewluck T, Milone M.
Neurol Genet. 2022 Apr 26;8(3):e672. doi: 10.1212/NXG.0000000000000672. eCollection 2022 Jun.
PMID:35711818
Genetics and Therapies for GM2 Gangliosidosis.
Cachon-Gonzalez MB, Zaccariotto E, Cox TM.
Curr Gene Ther. 2018;18(2):68-89. doi: 10.2174/1566523218666180404162622.
PMID:29618308
[Lysosome disease--Sandhoff disease].
Eguchi I, Wakamatsu N, Nakano R, Tsuji S.
Nihon Rinsho. 1993 Sep;51(9):2276-80.
PMID:8411702
Clinical and genetic features of a case with juvenile onset sandhoff disease.
Yin JH, Hu WZ, Huang Y.
BMC Neurol. 2023 Jun 21;23(1):240. doi: 10.1186/s12883-023-03267-7.
PMID:37344817
Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.
Gowda VK, Amoghimath R, Srinivasan VM, Bhat M.
J Pediatr Neurosci. 2017 Jan-Mar;12(1):78-79. doi: 10.4103/1817-1745.205623.
PMID:28553389
Sandhoff disease.
Tatematsu M, Imaida K, Ito N, Togari H, Suzuki Y, Ogiu T.
Acta Pathol Jpn. 1981 May;31(3):503-12. doi: 10.1111/j.1440-1827.1981.tb01391.x.
PMID:7270152
TSPO in a murine model of Sandhoff disease: presymptomatic marker of neurodegeneration and disease pathophysiology.
Loth MK, Choi J, McGlothan JL, Pletnikov MV, Pomper MG, Guilarte TR.
Neurobiol Dis. 2016 Jan;85:174-186. doi: 10.1016/j.nbd.2015.11.001. Epub 2015 Nov 3.
PMID:26545928
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