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Tay Sachs disease

Tay-Sachs Disease
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Tay Sachs disease" returned 2 free, full-text review articles. First 2 results:
Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.
Last Updated: Jun 22, 2019

Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying ...

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.
Last Updated: May 01, 2019

Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying ...

Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.
Last Updated: Dec 02, 2018

Internationally, Tay-Sachs disease (TSD) preconception screening of Ashkenazi Jewish (AJ) individuals and couples has led to effective primary prevention of TSD. In Australia, adolescent preconception genetic screening programs operate mainly in Jewish community high schools. These ...

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2 Free Review Articles 12 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Tay Sachs disease" returned 1 free, full-text editorial articles. First 1 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Tay Sachs disease" returned 115 free, full-text research articles. First few results:
Tay-Sachs disease: a novel mutation from India.
Last Updated: Mar 29, 2019

Lysosomal storage disorders or lipidoses are a wide spectrum of inherited diseases caused by deficiency of a specific lysosomal hydrolase. About 134 mutations have been described so far and this number is gradually increasing with newer mutations being reported. We report a 28-month-old ...

Prenatal Diagnosis of Tay-Sachs Disease.
Last Updated: Jun 05, 2019

Tay-Sachs disease (TSD) is an autosomal recessive lysosomal storage disorder caused by mutations of the HEXA gene resulting in the deficiency of hexosaminidase A (Hex A) and subsequent neuronal accumulation of G gangliosides. Infantile TSD is a devastating and fetal neurodegenerative ...

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.
Last Updated: Mar 18, 2019

Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of GM2 ganglioside, a glycosphingolipid, in lysosomes. Currently, there ...

Full PubMed Research articles matches at NCBI:
115 Free Research Articles 346 Research Articles