Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Maina Kava"'
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
Autor:
Lisa G. Riley, Michael Nafisinia, Minal J. Menezes, Reta Nambiar, Andrew Williams, Elizabeth H. Barnes, Arthavan Selvanathan, Kate Lichkus, Drago Bratkovic, Joy Yaplito-Lee, Kaustuv Bhattacharya, Carolyn Ellaway, Maina Kava, Shanti Balasubramaniam, John Christodoulou
Publikováno v:
Molecular genetics and metabolism. 135(1)
Several studies have shown serum fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15) levels are elevated in patients with mitochondrial disease (MD) where myopathy is a feature. In this study we investigated the utility o
Autor:
Shanti Balasubramaniam, Liesbeth T.M. Wintjes, Maina Kava, Frans A. van den Brandt, Yngve T. Bliksrud, Mari A. Kulseth, Silja S. Amundsen, Terje R. Selberg, Richard J.T. Rodenburg
Publikováno v:
Pathology. 54:S71-S72
Publikováno v:
ASVIDE. 9:125-125
Publikováno v:
Australian Journal of Otolaryngology. 5:10-10
Autor:
Lisa G, Riley, Mark J, Cowley, Velimir, Gayevskiy, Andre E, Minoche, Clare, Puttick, David R, Thorburn, Rocio, Rius, Alison G, Compton, Minal J, Menezes, Kaustuv, Bhattacharya, David, Coman, Carolyn, Ellaway, Ian E, Alexander, Louisa, Adams, Maina, Kava, Jacqui, Robinson, Carolyn M, Sue, Shanti, Balasubramaniam, John, Christodoulou
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(7)
The utility of genome sequencing (GS) in the diagnosis of suspected pediatric mitochondrial disease (MD) was investigated.An Australian cohort of 40 pediatric patients with clinical features suggestive of MD were classified using the modified Nijmege
Publikováno v:
Pediatric Neurology. 49:374-378
Background Mutations in the fukutin-related protein gene account for a broad spectrum of phenotypes ranging from severe congenital muscular dystrophies to a much milder limb-girdle muscular dystrophy 2I. The involvement of the eyes is variable, with
Publikováno v:
Indian journal of medical sciences. 65(7)
To study the efficacy of early meconium evacuation using per rectal laxatives on the level of serum bilirubin and the need for phototherapy in healthy term infants.Systematic review of randomized controlled trials comparing per rectal laxatives versu