Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Liga Bivina"'
Autor:
Anne Sigaard Bie, Paula Fernandez-Guerra, Rune Isak Dupont Birkler, Shahar Nisemblat, Dita Pelnena, Xinping Lu, Joshua L. Deignan, Hane Lee, Naghmeh Dorrani, Thomas Juhl Corydon, Johan Palmfeldt, Liga Bivina, Abdussalam Azem, Kristin Herman, Bross Peter
Publikováno v:
Frontiers in Molecular Biosciences, Vol 3 (2016)
We here report molecular investigations of a missense mutation in the HSPE1 gene encoding the HSP10 subunit of the HSP60/ HSP10 chaperonin complex that assists protein folding in the mitochondrial matrix. The mutation was identified in an infant who
Externí odkaz:
https://doaj.org/article/9e7c8d363c77454eaff22d3e14494621
Autor:
Véronique Taché, Liga Bivina, Sophie White, Jeffrey Gregg, Joshua Deignan, Simeon A. Boyadjievd, Francis R. Poulain
Publikováno v:
Case Reports in Obstetrics and Gynecology, Vol 2016 (2016)
A term male neonate developed severe intractable lactic acidosis on day of life 1 and died the same day at our institution. The family previously lost another term, female newborn on day of life 1 from suspected sepsis at an outside hospital. After p
Externí odkaz:
https://doaj.org/article/216fdfc19f2d48799caab76d113546a7
Autor:
Liga Bivina, Simeon A. Boyadjiev
Publikováno v:
Molecular Genetics and Metabolism. 111:S27
Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase enzyme activity. Affected males experience progressive disease including airway obstruction, skeletal deformities, cardiom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a1ef2181e6862c528371e45483f8c301
https://doi.org/10.1016/j.ymgme.2013.12.042
https://doi.org/10.1016/j.ymgme.2013.12.042
Autor:
Justin T. Wahlstrom, Christopher C. Dvorak, Morton J. Cowan, Mara Bailey-Olson, Simeon Boyd, Biljana Horn, Liga Bivina
Publikováno v:
Molecular Genetics and Metabolism. 111:S27
Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal disorder caused by deficiency of iduronate-2-sulfatase enzyme activity. Affected males experience progressive disease including airway obstruction, skeletal deformities, cardiom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b572c1dbf11ad6acc2ec2cafb6e1977
https://doi.org/10.1016/j.ymgme.2013.12.044
https://doi.org/10.1016/j.ymgme.2013.12.044
Publikováno v:
Molecular Genetics and Metabolism. 106:255
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8996dc232b2e3c168dcdb8413baf2ad2
https://doi.org/10.1016/j.ymgme.2012.04.001
https://doi.org/10.1016/j.ymgme.2012.04.001
Publikováno v:
Molecular Genetics and Metabolism. 105:S22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36e78fd5c3b60006b3d505d41de249f2
https://doi.org/10.1016/j.ymgme.2011.11.032
https://doi.org/10.1016/j.ymgme.2011.11.032