Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Tam Dam Pham"'
Autor:
Christina Y. Miyake, Erica J. Lay, Claudia Soler-Alfonso, Kevin E. Glinton, Kimberly M. Houck, Mustafa Tosur, Nancy E. Moran, Sara B. Stephens, Fernando Scaglia, Taylor S. Howard, Jeffrey J. Kim, Tam Dam Pham, Santiago O. Valdes, Na Li, Chaya N. Murali, Lilei Zhang, Maina Kava, Deane Yim, Cheyenne Beach, Gregory Webster, Leonardo Liberman, Christopher M. Janson, Prince J. Kannankeril, Samantha Baxter, Moriel Singer-Berk, Jordan Wood, Samuel J. Mackenzie, Michael Sacher, Lina Ghaloul-Gonzalez, Claudia Pedroza, Shaine A. Morris, Saad A. Ehsan, Mahshid S. Azamian, Seema R. Lalani
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics.
TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises. The purpose of th
Autor:
Christina Y. Miyake, Erica J. Lay, Cheyenne M. Beach, Scott R. Ceresnak, Caridad M. Delauz, Taylor S. Howard, Christopher M. Janson, Kate Jardine, Prince J. Kannankeril, Maina Kava, Jeffrey J. Kim, Leonardo Liberman, Scott L. Macicek, Tam Dam Pham, Terry Robertson, Santiago O. Valdes, Gregory Webster, Sara B. Stephens, Diana M. Milewicz, Mahshid Azamian, Saad A. Ehsan, Kimberly M. Houck, Claudia Soler-Alfonso, Kevin E. Glinton, Mustafa Tosur, Na Li, Weiyi Xu, Seema R. Lalani, Lilei Zhang
Publikováno v:
Heart rhythm. 19(10)
TANGO2 deficiency disorder (TDD) is an autosomal recessive disease associated with metabolic crisis, lethal cardiac arrhythmias, and cardiomyopathy. Data regarding treatment, management, and outcomes of cardiac manifestations of TDD are lacking.The p