Results 101 to 110 of about 12,643 (191)
Doença de Tay-Sachs em criança de raça negra Tay-Sachs disease in a Negro child
Arquivos 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
Report of two Cases of Tay–Sachs in Children of a Single Family
Armaghane 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
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Prenatal Diagnosis, Volume 45, Issue 10, Page 1277-1280, September 2025.
Lilian Downie +2 more
wiley +1 more source
Tay-Sachs disease: current perspectives from Australia
The 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, September 19, 1975 [PDF]
, 1975 Volume 65, Issue 8https://scholarworks.sjsu.edu/spartandaily/5994/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core +1 more source
GM1 and GM2 gangliosides: recent developments
Biomolecular Concepts, 2014 GM1 and GM2 gangliosides are important components of the cell membrane and play an integral role in cell signaling and metabolism. In this conceptual overview, we discuss recent developments in our understanding of the basic biological functions of GM1 ...
Bisel Blaine +2 more
doaj +1 more source
A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. [PDF]
, 2010 Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons.
Ancer Rodríguez, Jesús +7 more
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The Virginia Sickle Cell Anemia Awareness Program: Education, Screening, and Counseling [PDF]
, 1977 In 1968, a program of screening for sickle trait carriers was begun as part of the work of the Hematology Division, Department of Medicine, at the Medical College of Virginia.
Cooper, Florence N., Scott, Robert B.
core +1 more source
Disease Management and Liability in the Human Genome Era [PDF]
, 2002 The completion of a rough draft of the Human Genome presents both tremendous potential for improvements in health care delivery and challenges to providing appropriate incentives that will bring forth new treatments while protecting individuals and ...
Palmer, Larry I.
core +2 more sources
Population Screening for Genetic Disease [PDF]
, 1977 Recent advances in genetics and laboratory techniques have raised difficult issues for both the medical and lay communities. The desirability of initiating population screening programs is an example of one such issue that has engendered considerable ...
Mamunes, Peter
core +1 more source