Zobrazeno 1 - 5
of 5
pro vyhledávání: '"William Laxen"'
Autor:
Amy White, Jordan Bontrager, William Laxen, Perry Loken, Tiffany Grider, Josef Alawneh, Vincent Carson, Emily Lauer, Angela Pickart, Zhiyv Niu, Devin Oglesbee, Dimitar Gavrilov, Silvia Tortorelli, Patricia Hall, Dietrich Matern, Michael Shy, David Herrmann, Matthew Schultz
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100881- (2024)
Externí odkaz:
https://doaj.org/article/37ceeccdda214b838c8e8237762a9488
Autor:
Zinandre Stander, William Laxen, Perry Loken, Amy White, Patricia Hall, Matthew Schultz, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Silvia Tortorelli
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100904- (2024)
Externí odkaz:
https://doaj.org/article/56f50773330d4736863406bcb27c1bba
Autor:
Adam J. Guenzel, Patricia L. Hall, Anna I. Scott, Christina Lam, Irene J. Chang, Jenny Thies, Carlos R. Ferreira, Pavel Pichurin, William Laxen, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Dietrich Matern, Silvia Tortorelli
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 67-74 (2021)
Abstract Background Glutaric acidemia type I (GA1) is an organic acidemia that is often unrecognized in the newborn period until patients suffer an acute encephalopathic crisis, which can be mistaken for nonaccidental trauma. Presymptomatic identific
Externí odkaz:
https://doaj.org/article/3aa1ce10246a476c8e42827109fe6a4c
Autor:
Piero Rinaldo, Devin Oglesbee, Angela L. Hewitt, William Laxen, April Studinski, Jan Mendelt Tillema, Ester Perales-Clemente, Arne H. Graff, Brendan C. Lanpher
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 21-28 (2021)
JIMD Reports
JIMD Reports
Introduction Nonaccidental trauma (NAT) is considered when pediatric patients present with intracranial injuries and a negative history of an accidental injury or concomitant medical diagnosis. The evaluation of NAT should include the consideration o
Autor:
Olivia Wenger, Emma L. Baple, Silvia Tortorelli, Devyani Chowdhury, Brandon Smith, William Laxen, Miraides Brown, Andrew H. Crosby, Mark Yoder, Kevin A. Strauss
Publikováno v:
Molecular genetics and metabolism. 131(3)
Propionic acidemia (PA) is caused by inherited deficiency of mitochondrial propionyl-CoA carboxylase (PCC) and results in significant neurodevelopmental and cardiac morbidity. However, relationships among therapeutic intervention, biochemical markers