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].
Microglia-neuron crosstalk through Hex-GM2-MGL2 maintains brain homeostasis.
Frosch M, Shimizu T, Wogram E, Amann L, Gruber L, Groisman AI, Fliegauf M, Schwabenland M, Chhatbar C, Zechel S, Rosewich H, Gärtner J, Quintana FJ, Buescher JM, Blank T, Binder H, Stadelmann C, Letzkus JJ, Hopf C, Masuda T, Knobeloch KP, Prinz M.
Nature. 2025 Oct;646(8086):913-924. doi: 10.1038/s41586-025-09477-y. Epub 2025 Aug 6.
Sandhoff Disease.
Xiao C, Tifft C, Toro C.
2022 Apr 14. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
Microglial replacement in a Sandhoff disease mouse model reveals myeloid-derived beta-hexosaminidase is necessary for neuronal health.
Tsourmas KI, Butler CA, Kwang NE, Sloane ZR, Dykman KJG, Maloof GO, Choudhury BP, Paulchakrabarti M, Prekopa CA, Tabaie EZ, Krattli RP, El-Khatib SM, Swarup V, Acharya MM, Hohsfield LA, Green KN.
Nat Commun. 2025 Aug 27;16(1):7994. doi: 10.1038/s41467-025-63237-0.
[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.
Sandhoff disease--a case report of 3 siblings and a review of potential therapies.
Tay SK, Low PS, Ong HT, Loke KY.
Ann Acad Med Singap. 2000 Jul;29(4):514-7.
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 (beta-hexosaminidase alpha-chain deficiency)].
Taniike M, Okada S.
Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):397-9.
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.
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.
[Lysosome disease--Sandhoff disease].
Eguchi I, Wakamatsu N, Nakano R, Tsuji S.
Nihon Rinsho. 1993 Sep;51(9):2276-80.
