Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease).
Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).
[Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review].
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.
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.
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.
[Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review].
Schnorf H, Bosshard NU, Gitzelmann R, Spycher MA, Isler P, Waespe W.
Schweiz Med Wochenschr. 1996 May 4;126(18):757-64.
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.
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.
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.
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.
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.
Dysregulation of the NLRP3 Inflammasome and Promotion of Disease by IL-1beta in a Murine Model of Sandhoff Disease.
Platt N, Shepherd D, Smith DA, Smith C, Wallom KL, Luqmani R, Churchill GC, Galione A, Platt FM.
Cells. 2025 Jan 1;14(1):35. doi: 10.3390/cells14010035.
