Neonatal intrahepatic cholestasis caused by citrin deficiency: prevalence and SLC25A13 mutations among thai infants

Por Treepongkaruna, Suporn, Jitraruch, Suttiruk, Kodcharin, Porawee, Charoenpipop, Dussadee, Suwannarat, Pim, Pienvichit, Paneeya, Kobayashi, Keiko, Wattanasirichaigoon, Duangrurdee
Publicado em 2012

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria

Por Vilboux, Thierry, Kayser, Michael, Introne, Wendy, Suwannarat, Pim, Bernardini, Isa, Fischer, Roxanne, O’Brien, Kevin, Kleta, Robert, Huizing, Marjan, Gahl, William A.
Publicado em 2009

Aortic Stenosis and Vascular Calcifications in Alkaptonuria

Por Hannoush, Hwaida, Introne, Wendy J., Chen, Marcus Y., Lee, Sook-Jin, O'Brien, Kevin, Suwannarat, Pim, Kayser, Michael A., Gahl, William A., Sachdev, Vandana
Publicado em 2011

A 3-year Randomized Therapeutic Trial of Nitisinone in Alkaptonuria

Por Introne, Wendy J., Perry, Monique B., Troendle, James, Tsilou, Ekaterini, Kayser, Michael A., Suwannarat, Pim, O’Brien, Kevin E., Bryant, Joy, Sachdev, Vandana, Reynolds, James C., Moylan, Elizabeth, Bernardini, Isa, Gahl, William A.
Publicado em 2011

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Por Piotrowski, Arkadiusz, Xie, Jing, Liu, Ying F, Poplawski, Andrzej B, Gomes, Alicia R, Madanecki, Piotr, Fu, Chuanhua, Crowley, Michael R, Crossman, David K, Armstrong, Linlea, Babovic-Vuksanovic, Dusica, Bergner, Amanda, Blakeley, Jaishri O, Blumenthal, Andrea L, Daniels, Molly S, Feit, Howard, Gardner, Kathy, Hurst, Stephanie, Kobelka, Christine, Lee, Chung, Nagy, Rebecca, Rauen, Katherine A, Slopis, John M, Suwannarat, Pim, Westman, Judith A, Zanko, Andrea, Korf, Bruce R, Messiaen, Ludwine M
Publicado no Nat Genet (2013)