Results 1 to 10 of about 6,672 (175)

Infantile Sandhoff disease with ventricular septal defect: a case report [PDF]

Journal of Medical Case Reports, 2022
Background Infantile Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder.
Jamal Khaled Sahyouni, Luma Bassam Mahmoud Odeh, Fahad Mulla, Sana Junaid, Subhranshu Sekhar Kar, Naheel Mohammad Jumah Al Boot Almarri   +5 more
doaj   +2 more sources

Clinical and genetic features of a case with juvenile onset sandhoff disease [PDF]

BMC Neurology, 2023
Background Sandhoff disease (SD) is a rare neurological disease with high clinical heterogeneity. SD in juvenile form is much rarer and it is often misdiagnosed in clinics.
Jin-Hui Yin, Wen-Zheng Hu, Yue Huang
doaj   +2 more sources

Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease. [PDF]

PLoS ONE, 2011
To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified ...
Takashi Kodama, Tadayasu Togawa, Takahiro Tsukimura, Ikuo Kawashima, Kazuhiko Matsuoka, Keisuke Kitakaze, Daisuke Tsuji, Kohji Itoh, Yo-Ichi Ishida, Minoru Suzuki, Toshihiro Suzuki, Hitoshi Sakuraba   +11 more
doaj   +8 more sources

Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation[S] [PDF]

Journal of Lipid Research, 2018
Sandhoff disease, one of the GM2 gangliosidoses, is a lysosomal storage disorder characterized by the absence of β-hexosaminidase A and B activity and the concomitant lysosomal accumulation of its substrate, GM2 ganglioside.
Maria L. Allende, Emily K. Cook, Bridget C. Larman, Adrienne Nugent, Jacqueline M. Brady, Diane Golebiowski, Miguel Sena-Esteves, Cynthia J. Tifft, Richard L. Proia   +8 more
doaj   +2 more sources

Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model [PDF]

Molecular Therapy: Methods & Clinical Development, 2019
GM2 gangliosidoses are a family of severe neurodegenerative disorders resulting from a deficiency in the β-hexosaminidase A enzyme. These disorders include Tay-Sachs disease and Sandhoff disease, caused by mutations in the HEXA gene and HEXB gene ...
Evan Woodley, Karlaina J.L. Osmon, Patrick Thompson, Christopher Richmond, Zhilin Chen, Steven J. Gray, Jagdeep S. Walia   +6 more
doaj   +2 more sources

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

BMC Pediatrics, 2021
Background Sandhoff disease (SD) is an autosomal recessive lysosomal storage disorder, resulting in accumulation of GM2 ganglioside, particular in neuronal cells.
Thipwimol Tim-Aroon, Khunton Wichajarn, Kamornwan Katanyuwong, Pranoot Tanpaiboon, Nithiwat Vatanavicharn, Kullasate Sakpichaisakul, Arthaporn Kongkrapan, Jakris Eu-ahsunthornwattana, Supranee Thongpradit, Kanya Moolsuwan, Nusara Satproedprai, Surakameth Mahasirimongkol, Tassanee Lerksuthirat, Bhoom Suktitipat, Natini Jinawath, Duangrurdee Wattanasirichaigoon   +15 more
doaj   +2 more sources

Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats [PDF]

Journal of Feline Medicine and Surgery Open Reports, 2022
Case series summary Two Japanese domestic cats with GM2 gangliosidosis variant 0, diagnosed at different times, are included in this case series. Both cats were diagnosed by genetic analysis and had the HEXB :c.667C>T pathogenic genetic variant, which ...
Yoshihiko Yu, Daisuke Hasegawa, Yuji Hamamoto, Shunta Mizoguchi, Toshiki Fujimori, Yoshiaki Kubo, Md Shafiqul Islam, Osamu Yamato   +7 more
doaj   +2 more sources

Infantile Sandhoff Disease: Unusual presentation. [PDF]

Med J Armed Forces India, 2016
Sandhoff disease is a rare autosomal recessive disorder of sphingolipid metabolism that results from deficiency of the lysosomal enzymes, b-hexosaminidase A and B. The resultant accumulation of GM2ganglioside within both grey matter nuclei and myelin sheaths of the white matter results in eventual severe neuronal dysfunction and neurodegeneration ...
Muralidharan CG, Tomar RP.
europepmc   +4 more sources

Microglial replacement in a Sandhoff disease mouse model reveals myeloid-derived β-hexosaminidase is necessary for neuronal health [PDF]

Nature Communications
Lysosomal storage disorders (LSDs) are a large disease class involving lysosomal dysfunction, often resulting in neurodegeneration. Sandhoff disease (SD) is an LSD caused by a deficiency in the β subunit of the β-hexosaminidase enzyme (Hexb).
Kate I. Tsourmas, Claire A. Butler, Nellie E. Kwang, Zachary R. Sloane, Koby J. G. Dykman, Ghassan O. Maloof, Biswa P. Choudhury, Mousumi Paulchakrabarti, Christiana A. Prekopa, Emily Z. Tabaie, Robert P. Krattli, Sanad M. El-Khatib, Vivek Swarup, Munjal M. Acharya, Lindsay A. Hohsfield, Kim N. Green   +15 more
doaj   +2 more sources

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations [PDF]

Orphanet Journal of Rare Diseases, 2018
Background Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a lysosomal storage disorder. The most common symptoms of affected individuals at presentation are neurologic involvement.
Ali Reza Tavasoli, Nima Parvaneh, Mahmoud Reza Ashrafi, Zahra Rezaei, Johannes Zschocke, Parastoo Rostami   +5 more
doaj   +2 more sources