Results 41 to 50 of about 12,643 (191)
Trials, 2021 Background The lack of approved treatments for the majority of rare diseases is reflective of the unique challenges of orphan drug development. Novel methodologies, including new functionally relevant endpoints, are needed to render the development ...
T. Fields +22 more
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São Paulo Medical JournalCONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier ...
Roberto Rozenberg +1 more
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Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis)
Journal of Lipid Research, 1967 The carbohydrate composition was determined for ceramide hexosides isolated from brains of patients with Tay-Sachs disease and generalized gangliosidosis (hereby named GM1-gangliosidosis).Gray matter of patients with each disease showed a characteristic ...
Kunihiko Suzuki, Gloria C. Chen
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PATIENTS AT RISK OF THEIR ETHNIC BACKGROUND [PDF]
Romanian Journal of Pediatrics, 2009 This article discuss genetic disorders that appear with increased frequency in certain ethnic groups: – Ashkenazi jews: Tay-Sachs disease, adult Gaucher’s disease – type I, Niemann-Pick disease, mucolipidosis (type IV), pentosuria, Bloom syndrome ...
Valeriu Popescu
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Laypeople's Views on the Narrative Identity and Societal Treatment of Genetically Modified People
Bioethics, Volume 40, Issue 5, Page 472-481, June 2026.ABSTRACT Genome editing in human embryos could raise new ethical issues by changing future people's narrative and numerical identity. Most philosophers agree that some genetic modifications would have larger effects on identity than others, but they disagree on what criteria might explain these differences and have not supported their claims ...
Derek So, Yann Joly, Robert Sladek
wiley +1 more source
Late Onset Tay-Sachs Disease Presenting as a Brief Psychotic Disorder with Catatonia: A Case Report and Review of the Literature [PDF]
, 2012 This is a case report of late onset Tay-Sachs Disease diagnosed in a 14-year-old male non-Jewish adolescent who presented in a psychotic and catatonic state. The objective is to emphasize that Tay-Sachs disease can present with psychiatric symptoms, with
Saleh, Osama, M.D.
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Prenatal Diagnosis, Volume 46, Issue 5-6, Page 623-635, May 2026.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Spartan Daily, February 23, 1995 [PDF]
, 1995 Volume 104, Issue 20https://scholarworks.sjsu.edu/spartandaily/8665/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core +4 more sources
Stem Cell ResearchTay-Sachs and Sandhoff diseases, are sphingolipidoses caused by rare genetic mutations in the HEXA and HEXB genes, that encode the alpha and beta subunits of lysosomal hexosaminidase, respectively.
Vukasin M. Jovanovic +9 more
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Scientific Reports, 2021 This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological ...
Nejat Mahdieh +6 more
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