Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Julie Kissell"'
Autor:
Nicole Lyn, Ruth Pulikottil-Jacob, Camille Rochmann, Robert Krupnick, Chad Gwaltney, Nick Stephens, Julie Kissell, Gerald F. Cox, Tanya Fischer, Alaa Hamed
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Abstract Background The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) genes, respectivel
Externí odkaz:
https://doaj.org/article/503b96c9ebf2418784da0cbb633c808e
Autor:
Pilar Giraldo, Gulden Gokcay, Isabela Batsu, Julie Kissell, Maria G. Perichon, Guillermo I. Drelichman
Publikováno v:
Molecular Genetics and Metabolism. 138:107113
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ab4a667b03b66421a432d0c8e0f69df
https://doi.org/10.1016/j.ymgme.2022.107113
https://doi.org/10.1016/j.ymgme.2022.107113
Autor:
Tanya Fischer, Alaa Hamed, Ruth Pulikottil-Jacob, Robert Krupnick, Chad Gwaltney, Julie Kissell, Nicole Lyn, Camille Rochmann, Nick Stephens, Gerald F. Cox
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) genes, respectively. A mino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd2cca6e9a4a14847218f2657cc76152
https://doi.org/10.1186/s13023-020-01354-3
https://doi.org/10.1186/s13023-020-01354-3
Autor:
Christopher D. Stephen, Heather Lau, Alaa Hamed, Julie Kissell, Gerald F. Cox, Florian Eichler, Camille Rochmann, Pascal Minini, Tanya Fischer
Publikováno v:
Molecular Genetics and Metabolism. 129:S136
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5cee5fe136ecba4d6b2b04ed70e1145e
https://doi.org/10.1016/j.ymgme.2019.11.357
https://doi.org/10.1016/j.ymgme.2019.11.357
Autor:
Julie Kissell, Alaa Hamed, Susan Kahn, Ana Cristina Puga, Christopher D. Stephen, Camilo Toro, Heather Lau, Anureet K. Pabla, Jean M. Johnston, Pascal Minini, Heather L. Gray-Edwards, Cynthia J. Tifft, Elizabeth Haxton, Florian Eichler, Tanya Fischer
Publikováno v:
Molecular Genetics and Metabolism. 123:S122
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ce1a083b724f5244333521a8ffb8caa
https://doi.org/10.1016/j.ymgme.2017.12.330
https://doi.org/10.1016/j.ymgme.2017.12.330
Publikováno v:
Molecular Genetics and Metabolism. 117:S37
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f7992ea17d23205f9a2a0e8b0e823cf7
https://doi.org/10.1016/j.ymgme.2015.12.228
https://doi.org/10.1016/j.ymgme.2015.12.228