Results 81 to 90 of about 4,924,951 (177)

Community screening for Tay-Sachs disease.

, 1976
Tay-Sachs disease is a fatal genetic disease affecting Jewish infants of eastern European ancestry. While the disease may go unrecognized until nearly one year of age, death occurs by age three or four. Community screening programs have been organized to
Nimoityn, P, Jackson, L G, Faust, H S, Glazerman, L R   +3 more
core   +1 more source

New Approaches to Correcting Metabolic Errors in Tay-Sachs [PDF]

, 2016
Tay-Sachs Disease (TSD) is a neurodegenerative disorder categorized as both a gangliosidosis and a lysosomal storage disease. Tay-Sachs is caused by a deficiency in the enzyme ?-hexosaminidase A (Hex A).
Stefanski, Katherin
core   +1 more source

Doença de Tay-Sachs em criança de raça negra Tay-Sachs disease in a Negro child

Arquivos de Neuro-Psiquiatria, 1970
É relatado um caso de doença de Tay-Sachs em criança da raça negra. O encontro desta entidade em indivíduos não judeus é bastante raro, sendo este o quinto caso descrito em criança negra. Os autores estudam alguns aspectos genéticos, chegando à conclusão
Sérgio Rosemberg, Antônio B. Lefèvre
doaj  

An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis

Journal of Pediatric Research, 2018
Aim:The purpose of our study is to submit the demographic, phenotypic and age at diagnosis characteristics of children with GM2 gangliosidosis.Materials and Methods: Patients with GM2 gangliosidosis who were referred to Ege University Faculty of Medicine,
Esra Er, Ebru Canda, Havva Yazıcı, Cenk Eraslan, Eser Sözmen, Sema Kalkan Uçar, Mahmut Çoker   +6 more
doaj   +1 more source

GM2 activator protein deficiency, mimic of Tay-Sachs disease

, 2017
GM2 Gangliosidoses are a group of autosomal recessive genetic disorders caused by intra-lysosomal deposition of ganglioside GM2 mainly in the neuronal cells.
Sheela Nampoothiri, Natasha Radhakrishnan, Dhanya Yesodharan, KP Vinayan, Jayesh Sheth, Sheena Kochumon   +5 more
core   +1 more source

Report of two Cases of Tay–Sachs in Children of a Single Family

Armaghane Danesh Bimonthly Journal, 2019
Background & aim: Tay–Sachs is a rare autosomal recessive and neurological disease caused by the accumulation of glycosphingolipid within cell lysosomes.
N Sharifi, R Rahimani, F Mardani, F Adelizadeh   +3 more
doaj  

Alteration in Redox Homeostasis in Early-Onset Tay-Sachs Disease Mouse Model

, 2020
Tay-Sachs disease is an autosomal recessively inherited lysosomal disorder. It is caused by mutations on the HEXA gene encoding α-subunit of β-Hexosaminidase A enzyme.
Dağalp, Berkay, Ateş, Nurselin, Başırlı, Hatice Hande, Çalışkan, Tufan Utku, Seyrantepe, Volkan, Nalbant, Ayten, Demir, Seçil Akyıldız   +6 more
core   +1 more source

Tay-Sachs disease in a child of indigenous Guatemalan-Mayan origin with macular brown spots and perifoveal whitening Tay-Sachs disease in a child of indigenous Guatemalan-Mayan origin with macular brown spots and perifoveal whitening

Purpose: This report describes an unusual macular presentation of Tay-Sachs disease in a two-year-old female of Guatemalan-Mayan origin. This case serves to build upon the very limited literature regarding ophthalmic manifestations of Tay-Sachs disease ...
Berrocal, Audina, Abousy, Mya, Saenz, Erick Vinicio, Hucko, Lauren   +3 more
core   +3 more sources

Tay-Sachs disease in Brazilian patients: Prevalence of the IVS7+1g > c mutation

, 2004
Seven Brazilian Tay-Sachs disease cases were screened for the most frequent causative mutations. They all presented at least one copy of the IVS7+1g>c mutation.
Rozenberg, R., Z. Mustacchi, Pereira, L. V., L. V. Pereira, R. Rozenberg, Martins, A. M., Micheletti, C., Mustacchi, Z., A. M. Martins, C. Micheletti   +9 more
core   +1 more source

GM1 and GM2 gangliosides: recent developments

Biomolecular Concepts, 2014
GM1 and GM2 gangliosides are important components of the cell membrane and play an integral role in cell signaling and metabolism. In this conceptual overview, we discuss recent developments in our understanding of the basic biological functions of GM1 ...
Bisel Blaine, Pavone Francesco S., Calamai Martino   +2 more
doaj   +1 more source