Works matching DE "TAY-Sachs disease"
Results: 183
Arthroscopic reduction and subchondral support of reverse Hill–Sachs lesions with a bioabsorbable interference screw.
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- Archives of Orthopaedic & Trauma Surgery, 2009, v. 129, n. 8, p. 1103, doi. 10.1007/s00402-009-0840-x
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- Article
Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings.
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- Movement Disorders Clinical Practice, 2015, v. 2, n. 3, p. 289, doi. 10.1002/mdc3.12194
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- Article
THE CHANGING LANDSCAPE OF CARRIER SCREENING: EXPANDING TECHNOLOGY AND OPTIONS?
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- Health Matrix: Journal of Law-Medicine, 2013, v. 23, n. 1, p. 15
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- Article
PLATFORM PRESENTATIONS: NERVE AND MUSCLE.
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- 2006
- Publication type:
- Abstract
The diffusion of a mass genetic screening programme.
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- 1978
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- Publication type:
- journal article
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.
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- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10
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- Publication type:
- Article
Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.
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- Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10
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- Article
GM1 and GM2 gangliosides: recent developments.
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- Biomolecular Concepts, 2014, v. 5, n. 1, p. 87, doi. 10.1515/bmc-2013-0039
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- Article
Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era.
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- JAMA: Journal of the American Medical Association, 1993, v. 270, n. 19, p. 2307, doi. 10.1001/jama.1993.03510190063028
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- Article
GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease.
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- 2020
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- Publication type:
- journal article
Characterization of Inducible Models of Tay-Sachs and Related Disease.
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- PLoS Genetics, 2012, v. 8, n. 9, p. 1, doi. 10.1371/journal.pgen.1002943
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- Article
Use and design of genetic screening programmes--a study.
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- Journal of Biological Education (Society of Biology), 1998, v. 32, n. 2, p. 97, doi. 10.1080/00219266.1998.9655604
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- Article
Identification of a patient affected by "Juvenile-chronic" Tay Sachs disease in South Italy.
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- 2016
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- Publication type:
- Case Study
Tay-Sachs Screening.
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- International Journal of Dermatology, 1977, v. 16, n. 9, p. 747
- Publication type:
- Article
Sialidase-mediated depletion of G[sub m2] ganglioside in Tay-Sachs neuroglia cells.
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- Human Molecular Genetics, 1999, v. 8, n. 6, p. 1111, doi. 10.1093/hmg/8.6.1111
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- Publication type:
- Article
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice.
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- Human Molecular Genetics, 1999, v. 8, n. 5, p. 831, doi. 10.1093/hmg/8.5.831
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- Publication type:
- Article
Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cells.
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- Human Molecular Genetics, 1998, v. 7, n. 5, p. 831, doi. 10.1093/hmg/7.5.831
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- Publication type:
- Article
Kazanılmış Becerilerin Kaybı ile Başvuran İki GM2 Gangliosidoz Vakası.
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- Journal of the Child / Çocuk Dergisi, 2011, v. 11, n. 2, p. 94, doi. 10.5222/j.child.2011.094
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- Publication type:
- Article
Dermal Melanocytosis Associated with GM1-Gangliosidosis Type 1.
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- 2006
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- Publication type:
- Letter
GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).
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- Iranian Journal of Child Neurology, 2014, v. 8, n. 3, p. 55
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- Publication type:
- Article
Western blotting analysis of the β-hexosaminidase α- and β-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.
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- Acta Neurologica Scandinavica, 2002, v. 105, n. 6, p. 427, doi. 10.1034/j.1600-0404.2002.01097.x
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- Publication type:
- Article
Ashkenazi Jewish population screening for Tay- Sachs disease: The International and Australian experience.
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- Journal of Paediatrics & Child Health, 2015, v. 51, n. 3, p. 271, doi. 10.1111/jpc.12632
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- Publication type:
- Article
The Genuine Jewish Type: Racial Ideology and Anti-Immigrationism in Early Medical Writing about Tay-Sachs Disease.
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- Canadian Journal of Sociology, 2006, v. 31, n. 3, p. 291, doi. 10.2307/20058712
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- Publication type:
- Article
Testing Fate: Tay-Sachs Disease and the Right to be Responsible.
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- 2017
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- Publication type:
- Book Review
Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease.
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- 2018
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- Publication type:
- journal article
Carrier Testing for Autosomal-Recessive Disorders.
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- Critical Reviews in Clinical Laboratory Sciences, 2003, v. 40, n. 4, p. 473, doi. 10.1080/10408360390247832
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- Publication type:
- Article
Lending a helping hand, screening chemical libraries for compounds that enhance β-hexosaminidase A activity in GM2 gangliosidosis cells.
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- FEBS Journal, 2007, v. 274, n. 19, p. 4951, doi. 10.1111/j.1742-4658.2007.06040.x
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- Publication type:
- Article
Introduction: Pharmacological chaperone therapy for lysosomal storage disorders – leveraging aspects of the folding pathway to maximize activity of misfolded mutant proteins.
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- FEBS Journal, 2007, v. 274, n. 19, p. 4943, doi. 10.1111/j.1742-4658.2007.06043.x
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- Publication type:
- Article
Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.
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- Medical Journal of Australia, 2012, v. 197, n. 11/12, p. 652, doi. 10.5694/mja12.11010
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- Publication type:
- Article
Co-Creating Caring Science-Based Interprofessional Simulation Through the Living Experience.
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- International Journal for Human Caring, 2022, v. 26, n. 1, p. 31, doi. 10.1891/HumanCaring-D-21-00001
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- Publication type:
- Article
Pediatric Squamous Cell Carcinoma in the Setting of Voriconazole Prophylaxis after Cord Transplant in a Patient with Juvenile-onset Tay-Sachs Disease.
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- 2014
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- Publication type:
- Abstract
Mechanisms of distribution of mouse β-galactosidase in the adult GM1-gangliosidosis brain.
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- Gene Therapy, 2009, v. 16, n. 2, p. 303, doi. 10.1038/gt.2008.149
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- Publication type:
- Article
Integration of active human β-galactosidase gene (100 kb) into genome using HSV/AAV amplicon vector.
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- Gene Therapy, 2007, v. 14, n. 14, p. 1078, doi. 10.1038/sj.gt.3302960
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- Publication type:
- Article
Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis.
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- Molecular Biology International, 2012, p. 1, doi. 10.1155/2012/797342
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- Article
Neonatal Hyperekplexia.
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- Journal of Neonatology, 2023, v. 37, n. 2, p. 165, doi. 10.1177/09732179231157201
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- Publication type:
- Article
Lower frequency of Gaucher disease carriers among Tay-Sachs disease carriers.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 185, doi. 10.1038/sj.ejhg.5200176
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- Publication type:
- Article
Emerging Technologies and Their Impact on Disability.
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- Future of Children, 2012, v. 22, n. 1, p. 169, doi. 10.1353/foc.2012.0002
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- Publication type:
- Article
Rapid and simple polymerase chain reaction-based diagnostic assays for GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japanese domestic cats.
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- Journal of Veterinary Diagnostic Investigation, 2011, v. 23, n. 2, p. 338, doi. 10.1177/104063871102300224
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- Publication type:
- Article
The incidence and carrier frequency of Tay‐Sachs disease in the French‐Canadian population of Quebec based on retrospective data from 24 years, 1992–2015.
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- Journal of Genetic Counseling, 2020, v. 29, n. 6, p. 1173, doi. 10.1002/jgc4.1284
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- Publication type:
- Article
Patients' reactions and follow‐up testing decisions related to Tay‐Sachs (HEXA) variants of uncertain significance results.
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- Journal of Genetic Counseling, 2019, v. 28, n. 4, p. 738, doi. 10.1002/jgc4.1108
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- Publication type:
- Article
Correction.
- Published in:
- 2005
- Publication type:
- Correction Notice
G<sub>M2</sub>-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats.
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- Veterinary Record: Journal of the British Veterinary Association, 2004, v. 155, n. 23, p. 739
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- Publication type:
- Article
Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.
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- 2022
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- Publication type:
- Letter to the Editor
Neurodegeneration with Progressive Dystonia: Juvenile-Onset Tay--Sachs Disease.
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- 2022
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- Publication type:
- Letter to the Editor
An uncommon presentation of hexosaminidase deficiency.
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- Annals of Indian Academy of Neurology, 2006, v. 9, n. 2, p. 110, doi. 10.4103/0972-2327.25983
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- Publication type:
- Article
Neurometabolic and genetic diseases: a question of screening?
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- Developmental Medicine & Child Neurology, 2012, v. 54, n. 11, p. 967, doi. 10.1111/dmcn.12003
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- Publication type:
- Article
GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed.
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- Developmental Medicine & Child Neurology, 2012, v. 54, n. 2, p. 176, doi. 10.1111/j.1469-8749.2011.04160.x
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- Publication type:
- Article
GM2 gangliosidosis: the prototype of lysosomal storage disorders.
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- Developmental Medicine & Child Neurology, 2012, v. 54, n. 2, p. 104, doi. 10.1111/j.1469-8749.2011.04163.x
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- Publication type:
- Article
Oral Presentations.
- Published in:
- 2010
- Publication type:
- Abstract
TWENTY-FIVE YEARS AGO, MAY 1986.
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- Medicine & Health Rhode Island, 2011, v. 94, n. 5, p. 148
- Publication type:
- Article