BetterScholar BetterScholar
9
Role
Title
Level Year L/R
🐜 An international classification of inherited metabolic disorders (ICIMD)
79 auth. C. Ferreira, S. Rahman, M. Keller, J. Zschocke, J. Abdenur, Houda Ali, R. Artuch, A. Ballabio, B. Barshop, M. Baumgartner, E. Bertini, N. Blau, V. Carelli, C. Carroll, P. Chinnery, ... J. Christodoulou, V. Cornejo, N. Darín, T. Derks, D. Diodato, C. Dionisi-Vici, J. Duley, †. T. Fukao, Á. García-Cazorla, R. Giugliani, A. Goldstein, G. Hoffmann, R. Horvath, I. Ibarra, Anita Inwood, J. Jaeken, C. Jiménez-Mallebrera, A. Karaa, T. Klopstock, S. Kölker, C. Kornblum, V. Kožich, C. Lamperti, N. Larsson, A. Lemes, B. Lewis, M. Mancuso, R. Mcfarland, F. Mochel, J. Montoya, E. Morava, Karin Naess, T. Okuyama, A. Olry, V. Paquis-Flucklinger, S. Parikh, M. Patterson, C. Pérez de Ferrán, V. Peters, H. Prokisch, Ann Saada, G. Salomons, J. Saudubray, M. Scarpa, Ulrike Schara-Schmidt, M. Schiff, S. Servidei, J. Smeitink, A. Suomalainen, T. Tangeraas, Robert W. Taylor, I. Thiele, D. Thorburn, J. Hove, A. T. D. der Ploeg, C. Karnebeek, G. Visser, J. Vockley, R. Wanders, D. Webster, A. Wedell, V. Wiley, A. Wredenberg, M. Zeviani
7 2020
7
🐜
🐜 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder
61 auth. S. Pang, A. Clark, E. C. Neto, R. Giugliani, H. Dean, J. Winter, J. Dhondt, J. Farriaux, Annette Graters, E. Cacciari, A. Balsamo, S. Piazzi, S. Suwa, Yusuhiro Kuroda, Y. Wada, ... H. Naruse, T. Kizaki, N. Ichihara, O. Arai, S. Harada, K. Fujieda, N. Matsuura, S. Kusuda, M. Fukushi, Y. Mizushima, Y. Kikuti, Takio Yoyoura, S. Saisho, K. Shimozawa, M. Matsumoto, D. Webster, L. Vilarinho, A. M. Wallace, I. Eguileor, I. Marzana, E. Íñiguez, A. Fernández Sánchez, C. Gonzalez Gallego, L. Hagenfeldt, C. Guthenberg, U. von Dobeln, A. Thilén, A. Larsson, T. Torresani, C. Leblond, C. Papadea, F. Rumph, W. Craft, S. Kling, E. Tsalikian, J. Cook, J. Getchell, J. Susanin, M. Mitchell, L. Hofman, E. Naylor, B. Therrell, L. Brown, L. Prentice, M. Glass, Sheila S. Neier
7 1993
7
🐜
🐜 Enhanced interpretation of newborn screening results without analyte cutoff values
127 auth. Gregg Marquardt, R. Currier, D. McHugh, D. Gavrilov, M. J. Magera, D. Matern, D. Oglesbee, K. Raymond, P. Rinaldo, Emily H. Smith, S. Tortorelli, Coleman T. Turgeon, F. Lorey, B. Wilcken, V. Wiley, ... L. Greed, B. Lewis, F. Boemer, R. Schoos, S. Marie, M. Vincent, Y. C. Sica, Mouseline Torquado Domingos, K. Al-Thihli, G. Sinclair, O. Al-Dirbashi, P. Chakraborty, M. Dymerski, Cory Porter, Adrienne Manning, M. Seashore, Jonessy Quesada, Alejandra Reuben, P. Chrastina, P. Hornik, Iman Atef Mandour, Sahar Abdel Atty Sharaf, O. Bodamer, B. Dy, J. Torres, R. Zori, D. Cheillan, C. Vianey-Saban, David Ludvigson, A. Stembridge, J. Bonham, M. Downing, Y. Dotsikas, Y. Loukas, V. Papakonstantinou, G. Zacharioudakis, Ákos Baráth, E. Karg, L. Franzson, J. Jonsson, Nancy Breen, Barbara Lesko, S. L. Berberich, Kimberley Turner, M. Ruoppolo, Emanuela Scolamiero, I. Antonozzi, C. Carducci, U. Caruso, M. Cassanello, G. la Marca, E. Pasquini, I. D. Di Gangi, G. Giordano, M. Camilot, F. Teofoli, Shawn M. Manos, Colleen K. Peterson, Stephanie K Mayfield Gibson, Darrin W Sevier, Soo-Youn Lee, H. Park, I. Khneisser, P. Browning, F. Gulamali-Majid, M. Watson, R. Eaton, I. Sahai, Consuelo Ruiz, Rosario Torres, M. Seeterlin, Eleanor Stanley, Amy D. Hietala, M. McCann, C. Campbell, Patrick V. Hopkins, Monique G de Sain-Van der Velden, B. Elvers, Mark A. Morrissey, S. Sunny, Detlef Knoll, D. Webster, D. Frazier, J. Mcclure, David E. Sesser, Sharon A Willis, H. Rocha, L. Vilarinho, Catharine John, J. Lim, S. G. Caldwell, Kathy Tomashitis, D. C. Castiñeiras Ramos, J. A. Cocho de Juan, Inmaculada Rueda Fernández, R. Yahyaoui Macías, José María Egea-Mellado, I. González-Gallego, C. Delgado Pecellín, Maria Sierra García-Valdecasas Bermejo, Y. Chien, W. Hwu, Thomas Childs, Christine D McKeever, T. Tanyalçın, Mahera Abdulrahman, C. Queijo, A. Lemes, Tim Davis, W. Hoffman, M. Baker, G. Hoffman
6 2012
6
🐜
🐜 Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia.
7 auth. J. Fitness, N. Dixit, D. Webster, T. Torresani, R. Pergolizzi, P. Speiser, ... D. Day
6 1999
6
🐜
🐜 Etiology of increasing incidence of congenital hypothyroidism in New Zealand from 1993-2010.
8 auth. B. Albert, W. Cutfield, D. Webster, J. Carll, J. Derraik, C. Jefferies, ... A. Gunn, P. Hofman
6 2012
6
🐜
🐢 Newborn screening for congenital adrenal hyperplasia in New Zealand.
W. Cutfield, D. Webster
6 1995
6
🐢
🐜 Neurodevelopmental and body composition outcomes in children with congenital hypothyroidism treated with high-dose initial replacement and close monitoring.
11 auth. B. Albert, N. Heather, J. Derraik, W. Cutfield, T. Wouldes, Sheryl Tregurtha, ... S. Mathai, D. Webster, C. Jefferies, A. Gunn, P. Hofman
6 2013
6
🐜
🐜 Posthumous diagnosis of long QT syndrome from neonatal screening cards.
17 auth. P. Gladding, Cary-Anne Evans, Cary-Anne Evans, J. Crawford, S. Chung, A. Vaughan, D. Webster, K. Neas, K. Neas, D. Love, ... D. Love, M. Rees, M. Rees, M. Rees, A. Shelling, A. Shelling, J. Skinner
5 2010
5
🐜
🐜 Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994-2013.
9 auth. N. Heather, S. Seneviratne, D. Webster, J. Derraik, C. Jefferies, J. Carll, ... Yannan Jiang, W. Cutfield, P. Hofman
5 2015
5
🐜