A Moment in Human Development: Legal Protection, Ethical Standards and Social Policy on the Selective Non-Treatment of Handicapped Neonates [PDF]
, 1985 Selective non-treatment decisions involving severely handicapped neonates have recently come under renewed judicial and legislative scrutiny. In this article, the author examines the legal, ethical and social considerations attendant to the non-treatment
Gostin, Lawrence O.
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Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts [PDF]
, 2020 GM2 gangliosidoses are autosomal recessive lysosomal storage diseases (LSDs) caused by mutations in the HEXA, HEXB and GM2A genes, which encode the human lysosomal β-hexosaminidase (Hex) α- and β-subunits, and GM2 activator protein (GM2A), respectively ...
Hirokawa, Takatsugu +6 more
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Myelin Deficits and Intravenous Gene Therapy in Feline Sandhoff Disease [PDF]
, 2021 Sandhoff Disease (SD) is a neurodegenerative lysosomal storage disease (LSD) that results in the death of children before 4 years of age. Because there are no FDA-approved therapies available, current treatment strategies are limited to palliation. SD is
Maguire, Anne
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Phenotypic characterisation of human iPSC neuronal models of GM2 gangliosidoses [PDF]
Gangliosides are crucial components on the outer leaflet of the plasma membrane of many cells, especially neurons. Their functions are broad and varied but their high abundance in neurons leaves these cells especially vulnerable to the effects of their ...
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The Corpus Callosum and its Abnormalities in cats and dogs: three distinct clinical presentations [PDF]
, 2020 Dissertação de Mestrado Integrado em Medicina VeterináriaDissertação de Mestrado Integrado em Medicina VeterináriaThe Corpus Callosum is the greatest of the three telencephalic commissures and is exclusive of placental mammals.
Almeida, Francisca Soares Marques de
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Dysregulation of NLRP3 inflammasome and promotion of disease by IL-1β in a murine model of Sandhoff disease [PDF]
Sandhoff disease (SD) is a progressive neurodegenerative lysosomal storage disorder characterized by GM2 ganglioside accumulation as a result of mutations in the HEXB gene, which encodes the β-subunit of the enzyme β-hexosaminidase.
Churchill, Grant C +8 more
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Animal models of GM2 gangliosidosis: utility and limitations
The Application of Clinical Genetics, 2016 Cheryl A Lawson,1,2 Douglas R Martin2,3 1Department of Pathobiology, 2Scott-Ritchey Research Center, 3Department of Anatomy, Physiology and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, USA Abstract: GM2 gangliosidosis, a ...
Lawson CA, Martin DR
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Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts [PDF]
, 2016 GM2 gangliosidoses are autosomal recessive lysosomal storage diseases (LSDs) caused by mutations in the HEXA, HEXB and GM2A genes, which encode the human lysosomal β-hexosaminidase (Hex) α- and β-subunits, and GM2 activator protein (GM2A), respectively ...
00184656 +25 more
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GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and electroencephalography [PDF]
ObjectivesGangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits.
Ahmad Abadi, Farzad +4 more
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