Results 61 to 70 of about 4,845,721 (162)

Sandhoff's Disease: A Case Report

Asian Journal of Pediatric Research
Sandhoff disease is a rare inherited disorder within the sphingolipidosis family, characterized by the accumulation of lipids in the nervous system due to a deficiency in hexosaminidase types A and B enzymes. This condition leads to progressive neurological disorders and eventual blindness, often resulting in fatality before the age of 4.
R. Majd, A. Radi, A. Laarej, A. Hassani, R. Abilkassem   +4 more
openaire   +1 more source

A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China. [PDF]

Medicine (Baltimore), 2023
Xie H, Lin S, Chen Y, Wang W, Qi Y, Li J, Chen Q, Feng X.   +7 more
europepmc   +1 more source

Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin

, 1999
Sandhoff disease is a neurodegenerative disorder resulting from the autosomal recessive inheritance of mutations in the HEXB gene, which encodes the β-subunit of β-hexosaminidase. G(M2) ganglioside fails to be degraded and accumulates within lysosomes in
Cortina-Borja, Mario, Perry, V. Hugh, Hunnam, Victoria, Platt, Frances M., Proia, Richard L., Dwek, Raymond A., Jeyakumar, Mylvaganam, Butters, Terry D.   +7 more
core   +1 more source

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

JFMS Open Rep, 2022
Yu Y, Hasegawa D, Hamamoto Y, Mizoguchi S, Fujimori T, Kubo Y, Islam MS, Yamato O.   +7 more
europepmc   +1 more source

Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, Whole HEXB Gene Deletion, and Coexisting MYH7 Pathogenic Variant. [PDF]

Neurol Genet, 2022
Beecher G, Liewluck T, Milone M.
europepmc   +1 more source

Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease. [PDF]

Child Neurol Open, 2022
Ozaal S, Jayasena S, Jayakody S, Schröder S, Jayawardana A, Jasinge E.   +5 more
europepmc   +1 more source

Iminosugar-based GCS inhibitors improve Sandhoff mouse function.

, 2013
(A) Mice were evaluated in an open-field assay at 112 days of age. Total distance traversed (ambulatory distance) and the number of times the mice raised onto their hind legs (rearing events) over 30 min are shown. (n = 15/group.
Seng H. Cheng (142952), Scott D. Bercury (142916), Christopher G. F. Cooper (328643), Diane P. Copeland (349022), Dinesh Bangari (349019), Johannes M. F. G. Aerts (128594), Karen M. Ashe (349018), Mario A. Cabrera-Salazar (142913), John Marshall (39501), Jennifer B. Nietupski (349020), Lingyun Li (142918), Ronald K. Scheule (142955), Edward R. Lee (349021)   +12 more
core   +1 more source

Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice.

, 2010
Sandhoff disease is an autosomal recessive, neurodegenerative disease involving the storage of brain ganglioside GM2 and asialo-GM2. Previous studies showed that caloric restriction, which augments longevity, and N-butyldeoxynojirimycin (NB-DNJ ...
Thomas N. Seyfried, Platt, Frances, Christine A. Denny, Rena C. Baek, Karie A. Heinecke, Platt, FM, Bronson, RT, Katrina S. Loh, Roderick T. Bronson, Denny, CA, Kim, YP, Butters, TD, Loh, KS, Baek, RC, Youngho P. Kim, Seyfried, TN, Terry D. Butters, Heinecke, KA, Frances M. Platt   +18 more
core   +1 more source

Sandhoff's Disease

NO TO HATATSU, 1974
YUASA, Takeshi, YOKOTA, Kiyoshi, MITSUDOME, Akihisa, TAKASHIMA, Sachio, KUROKAWA, Toru   +4 more
openaire   +3 more sources

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

BMC Pediatr, 2021
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.   +15 more
europepmc   +1 more source