Results 121 to 130 of about 20,780 (190)

Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum. [PDF]

Orphanet J Rare Dis, 2023
Ibrahim DMA, Ali OSM, Nasr H, Fateen E, AbdelAleem A.   +4 more
europepmc   +1 more source

Spartan Daily, February 8, 1990 [PDF]

, 1990
Volume 94, Issue 9https://scholarworks.sjsu.edu/spartandaily/7939/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core   +1 more source

Appropriate Aims: Setting Boundaries for Reprogenetic Technology [PDF]

, 2002
Not too long ago, ten fingers and ten toes defined a successful birth. Not too far from now, ten fingers and ten toes will be just the beginning. Parents always hope for a healthy baby, and medical advances continue to help secure the fulfillment of this
Ziker, Dana
core   +1 more source

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. [PDF]

Cochrane Database Syst Rev, 2021
Hussein N, Henneman L, Kai J, Qureshi N.
europepmc   +1 more source

Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors. [PDF]

Ann Indian Acad Neurol, 2022
Sheth J, Mohapatra I, Patra G, Bhavsar R, Patel C, Shah S, Nair A.   +6 more
europepmc   +1 more source

Yeast-Produced Human Recombinant Lysosomal β-Hexosaminidase Efficiently Rescues GM2 Ganglioside Accumulation in Tay-Sachs Disease. [PDF]

J Pers Med
Inci OK, Leal AF, Ates N, Súarez DA, Espejo-Mojica AJ, Alméciga-Diaz CJ, Seyrantepe V.   +6 more
europepmc   +1 more source

Serum Cytokine Profile, Beta-Hexosaminidase A Enzymatic Activity and GM₂ Ganglioside Levels in the Plasma of a Tay-Sachs Disease Patient after Cord Blood Cell Transplantation and Curcumin Administration: A Case Report. [PDF]

Life (Basel), 2021
Shaimardanova AA, Chulpanova DS, Solovyeva VV, Garanina EE, Salafutdinov II, Laikov AV, Kursenko VV, Chakrabarti L, Zakharova EY, Bukina TM, Baydakova GV, Rizvanov AA.   +11 more
europepmc   +1 more source

Tay-Sachs disease.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1973
T, Jenkins, E, Wilton, R, Bernstein, G T, Nurse, R E, Bernstein   +4 more
openaire   +3 more sources

Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay-Sachs Disease. [PDF]

Pharmaceutics
Guerrero-Vargas JM, Suarez-Garcia DA, Leal AF, Diaz-Ariza IL, Pérez-Pérez LD, Espejo-Mojica AJ, Alméciga-Díaz CJ.   +6 more
europepmc   +1 more source

Toward a Framework of Mutualism: The Jewish Community in Genetics Research [PDF]

, 1998
Rothenberg, Karen H., Rutkin, Amy B.
core   +1 more source