Results 101 to 110 of about 6,691 (192)

Prenatal Diagnosis of Sandhoff Disease by Enzyme Analysis of Chorionic Villus Sample

Gynecology Obstetrics & Reproductive Medicine, 2008
OBJECTIVE AND STUDY DESIGN: The prenatal diagnosis of Sandhoff disease (SD) was performed in 14 fetuses of families by the analysis of chorionic villus sample obtained at 11-14 weeks of gestation. The diagnosis was based on the absence or near-absence of
Asuman Özkara, Ebru Dikensoy, Tülay Özlü, Meral Topçu, Nur Çakar, Mehmet Sinan Beksaç   +5 more
doaj  

Sandhoff Disease [PDF]

, 2020
openaire   +3 more sources

Niemann-Pick Type C Disease Reveals a Link between Lysosomal Cholesterol and PtdIns(4,5)P2 That Regulates Neuronal Excitability. [PDF]

, 2019
There is increasing evidence that the lysosome is involved in the pathogenesis of a variety of neurodegenerative disorders. Thus, mechanisms that link lysosome dysfunction to the disruption of neuronal homeostasis offer opportunities to understand the ...
Dickson, Eamonn J, Dixon, Rose E, Ory, Daniel S, Tiscione, Scott A, Vivas, Oscar   +4 more
core   +2 more sources

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

Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study

Orphanet Journal of Rare Diseases
Background GM1 and GM2 (Tay–Sachs and Sandhoff diseases) gangliosidoses are rare, autosomal recessive, potentially life-threatening, disabling disorders characterized by progressive neurodegeneration, with no disease-modifying treatment. This qualitative
Maria Belen Rodriguez, Ruth Pulikottil-Jacob, Karli Heuer, Nancy Gabriela Perez, Christine Waggoner, Diana Jussila, Chad Gwaltney, Robert Krupnick, Daisy Ng-Mak   +8 more
doaj   +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

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

Amiodarone and metabolite MDEA inhibit Ebola virus infection by interfering with the viral entry process [PDF]

, 2017
Ebola virus disease (EVD) is one of the most lethal transmissible infections characterized by a high fatality rate, and a treatment has not been developed yet.
Baritussio, Aldo, Bigler, Laurent, Calistri, Arianna, Fabris, Fabrizio, Garzino-Demo, Alfredo, Ha, Huy Riem, Mirazimi, Ali, Munegato, Denis, Palù, Giorgio, Parolin, Cristina, Salata, Cristiano   +10 more
core  

Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models. [PDF]

Int J Mol Sci, 2021
Kot S, Karumuthil-Melethil S, Woodley E, Zaric V, Thompson P, Chen Z, Lykken E, Keimel JG, Kaemmerer WF, Gray SJ, Walia JS.   +10 more
europepmc   +1 more source