Results 101 to 110 of about 20,780 (190)

The Intersection Between Genetic Reproductive Carrier Screening and Genomic Newborn Screening: Implications for Clinical Practice

open access: yes
Prenatal Diagnosis, Volume 45, Issue 10, Page 1277-1280, September 2025.
Lilian Downie   +2 more
wiley   +1 more source

What is a premature death? [PDF]

open access: yes, 2007
The one who dies is deprived of goods that this person would have enjoyed if he or she had continued living, according to the popular “deprivation account of harm.” The person who dies “prematurely” is generally thought to suffer the most harm from death.
Trisel, Brooke Alan
core  

Testing fate: Tay-Sachs disease and the right to be responsible

open access: yesDisability & Society, 2016
Testing Fate: Tay-Sachs Disease and the Right to be Responsible draws upon a range of historical and contemporary ideologies surrounding genetic decision-making and eugenics in order to critically ...
L. Hamilton
semanticscholar   +1 more source

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

open access: yesJournal 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   +6 more
doaj   +1 more source

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

open access: yesArmaghane 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   +3 more
doaj  

Spartan Daily, September 11, 1975 [PDF]

open access: yes, 1975
Volume 65, Issue 3https://scholarworks.sjsu.edu/spartandaily/5991/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core   +1 more source

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

open access: yesArquivos 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  

Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis [PDF]

open access: yes
To develop a novel enzyme replacement therapy for neurodegenerative Tay-Sachs disease (TSD) and Sandhoff disease (SD), which are caused by deficiency of β-hexosaminidase (Hex) A, we designed a genetically engineered HEXB encoding the chimeric human β ...
Akeboshi   +44 more
core   +2 more sources

Tay-Sachs disease: current perspectives from Australia

open access: yesThe Application of Clinical Genetics, 2015
Raelia M Lew,1,7 Leslie Burnett,2,3,4 Anné L Proos,2 Martin B Delatycki5,6 1Department of Obstetrics and Gynecology, QEII Research Institute for Mothers and Infants, The University of Sydney, Australia; 2NSW Health Pathology North, Royal ...
Lew RM   +3 more
doaj  

Spartan Daily, November 13, 2001 [PDF]

open access: yes, 2001
Volume 117, Issue 53https://scholarworks.sjsu.edu/spartandaily/9758/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core   +1 more source

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