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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; 1993–2025.
PMID:35420740
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
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
Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease).
Modigliani R, Lemann M, Melançon SB, Mikol J, Potier M, Salmeron M, Said G, Poitras P.
Gastroenterology. 1994 Mar;106(3):775-81. doi: 10.1016/0016-5085(94)90715-3.
PMID:8119549
[Pathophysiology of Sandhoff Disease and Novel Thrapeutic Targets].
Oishi K.
Yakugaku Zasshi. 2023;143(1):65-75. doi: 10.1248/yakushi.22-00167.
PMID:36596541
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
Infantile Sandhoff disease with ventricular septal defect: a case report.
Sahyouni JK, Odeh LBM, Mulla F, Junaid S, Kar SS, Al Boot Almarri NMJ.
J Med Case Rep. 2022 Aug 25;16(1):317. doi: 10.1186/s13256-022-03550-0.
PMID:36002893
Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.
Martakis K, Claassen J, Gascon-Bayari J, Goldschagg N, Hahn A, Hassan A, Hennig A, Jones S, Kay R, Lau H, Perlman S, Sharma R, Schneider S, Bremova-Ertl T.
Neurology. 2023 Mar 7;100(10):e1072-e1083. doi: 10.1212/WNL.0000000000201660. Epub 2022 Dec 1.
PMID:36456200
[Lysosome disease--Sandhoff disease].
Eguchi I, Wakamatsu N, Nakano R, Tsuji S.
Nihon Rinsho. 1993 Sep;51(9):2276-80.
PMID:8411702
The beta-hexosaminidase deficiency disorders: development of a clinical paradigm in the mouse.
Tifft CJ, Proia RL.
Ann Med. 1997 Dec;29(6):557-61. doi: 10.3109/07853899709007482.
PMID:9562524
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