Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Laura A. Kiger"'
Autor:
Alana C. Cecchi, Elizabeth S. Vengoechea, Kristjan E. Kaseniit, Melanie W. Hardy, Laura A. Kiger, Nikita Mehta, Imran S. Haque, Krista Moyer, Patricia Z. Page, Dale Muzzey, Karen A. Grinzaid
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Abstract Background Pathogenic variants in HEXA that impair β‐hexosaminidase A (Hex A) enzyme activity cause Tay‐Sachs Disease (TSD), a severe autosomal‐recessive neurodegenerative disorder. Hex A enzyme analysis demonstrates near‐zero activ
Externí odkaz:
https://doaj.org/article/f54cb151ac62460c8e3c972f6df6730b
Autor:
Kristjan Eerik Kaseniit, Patricia Z. Page, Laura A. Kiger, Alana C. Cecchi, Dale Muzzey, Krista Moyer, Elizabeth S. Vengoechea, Imran S. Haque, Nikita Mehta, Karen A. Grinzaid, Melanie W Hardy
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Pathogenic variants in HEXA that impair β‐hexosaminidase A (Hex A) enzyme activity cause Tay‐Sachs Disease (TSD), a severe autosomal‐recessive neurodegenerative disorder. Hex A enzyme analysis demonstrates near‐zero activity in pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43e62c3e549f39098d54c711a2f1961
https://doi.org/10.1002/mgg3.836
https://doi.org/10.1002/mgg3.836
Autor:
Krista Moyer, Karen A. Grinzaid, Laura A. Kiger, Dale Muzzey, Eerik Kaseniit, Melanie W Hardy, Elizabeth D. Smith, Alana C. Cecchi
Publikováno v:
Molecular Genetics and Metabolism. 123:S133
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::18035c19cda3f8b544c9ed837e613f26
https://doi.org/10.1016/j.ymgme.2017.12.363
https://doi.org/10.1016/j.ymgme.2017.12.363