Results 71 to 80 of about 12,643 (191)
Prenatal Diagnosis Of Tay-Sachs Disease
Gynecology Obstetrics & Reproductive Medicine, 2010 OBJECTIVE: To emphasize the efficacy and safety of the prenatal invasive procedures for prenatal diagnosis of Tay-Sachs disease. STUDY DESIGN: In this case series, the results of the prenatal invasive procedures that were performed for diagnosing Tay ...
Özgür Özyüncü +4 more
doaj
Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease
Molecular Genetics and Metabolism Reports, 2014 Tay–Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in HEXA gene.
Jayesh Sheth +9 more
doaj +1 more source
Spartan Daily, September 11, 1975 [PDF]
, 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
Journal of Genetic Counseling, Volume 34, Issue 6, December 2025.Abstract As genomic testing becomes more common, it is essential to re‐examine practical and ethical arguments for and against eliciting race, ethnicity, and ancestry (REA) information from patients as a default practice in genetic counseling. In this article, we evaluate current and historical reasons for using REA information in clinical genetics ...
Emily Peugh +2 more
wiley +1 more source
A Zebra in Horse's Clothing: Rethinking the Diagnosis of Rare Diseases
Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.We analyze rare diseases with common presentations to reexamine genetic testing principles. In proposing criteria that emphasize patient capacity, test utility, and proportional invasiveness, we highlight gaps between guidelines and current practice. Coordinated, patient‐centered approaches are critical to maximize benefits, minimize harms, and inform ...
Rajeev Dutta +3 more
wiley +1 more source
Spartan Daily, November 13, 2001 [PDF]
, 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
World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 548-567, December 2025.ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley +1 more source
, 2013 The following case study is of Luba, a 4 year old girl diagnosed with Tay-Sachs disease and her music therapy process. Foundational information on Tay-Sachs disease is provided alongside a discussion of anticipatory grieving, and the death of a ...
Clements-Cortés, Amy
core +3 more sources
Abnormal gangliosides in Tay-Sachs disease, Niemann-Pick's disease, and gargoylism
Journal of Lipid Research, 1966 The molar ratios of N-acetyl neuraminic acid, hexose, hexosamine, and sphingosine have been determined for the abnormal ganglioside in Tay-Sachs disease that was previously detected as a fast-moving band in thin-layer chromatography, and in two abnormal ...
D.A. Booth, H. Goodwin, J.N. Cumings
doaj +1 more source
Spartan Daily, February 11, 1999 [PDF]
, 1999 Volume 112, Issue 11https://scholarworks.sjsu.edu/spartandaily/9368/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core +3 more sources