未登录 Phenylketonuria in adults: we know plenty, but there is much more to learn Harding, Cary O.; Arnold, Georgianne; Berry, Gerard; Christ, Shawn E.; Grange, Dorothy K.; Jurecki, Elaina; Levy, Harvey; Lichter-Konecki, Uta; Longo, Nicola; Mcnutt, Markey; Meachum, Page; Sacharow, Stephanie; Shayota, Brian; Thomas, Janet; Vucko, Erika 分享 收藏
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency Christ, Shawn E.; Arnold, Georgianne; Lichter-Konecki, Uta; Berry, Gerard T.; Grange, Dorothy K.; Harding, Cary O.; Jurecki, Elaina; Levy, Harvey; Longo, Nicola; Morotti, Hadley; Sacharow, Stephanie; Thomas, Janet; White, Desiree A. 分享 收藏
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PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights Johnstone, Devon L.; Al-Shekaili, Hilal H.; Tarailo-Graovac, Maja; Wolf, Nicole I.; Ivy, Autumn S.; Demarest, Scott; Roussel, Yann; Ciapaite, Jolita; van Roermund, Carlo W. T.; Kernohan, Kristin D.; Kosuta, Ceres; Ban, Kevin; Ito, Yoko; McBride, Skye; Al-Thihli, Khalid; Abdelrahim, Rana A.; Koul, Roshan; Al Futaisi, Amna; Haaxma, Charlotte A.; Olson, Heather; Sigurdardottir, Laufey Yr.; Arnold, Georgianne L.; Gerkes, Erica H.; Boon, M.; Heiner-Fokkema, M. Rebecca; Noble, Sandra; Bosma, Marjolein; Jans, Judith; Koolen, David A.; Kamsteeg, Erik-jan; Drogemoller, Britt; Ross, Colin J.; Majewski, Jacek; Cho, Megan T.; Begtrup, Amber; Wasserman, Wyeth W.; Bui, Tuan; Brimble, Elise; Violante, Sara; Houten, Sander M.; Wevers, Ron A.; van Faassen, Martijn; Kema, Ido P.; Lepage, Nathalie; Lines, Matthew A.; Dyment, David A.; Wanders, Ronald J. A.; Verhoeven-Duif, Nanda; Ekker, Marc; Boycott, Kym M.; Friedman, Jan M.; Pena, Izabella A.; van Karnebeek, Clara D. M. 分享 收藏
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations Wang, Xia; Charng, Wu-Lin; Chen, Chun-An; Rosenfeld, Jill A.; Al Shamsi, Aisha; Al-Gazali, Lihadh; McGuire, Marianne; Mew, Nicholas Ah; Arnold, Georgianne L.; Qu, Chunjing; Ding, Yan; Muzny, Donna M.; Gibbs, Richard A.; Eng, Christine M.; Walkiewicz, Magdalena; Xia, Fan; Plon, Sharon E.; Lupski, James R.; Schaaf, Christian P.; Yang, Yaping 分享 收藏
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State 纽约州克拉伯病新生儿筛查结果异常儿童的临床结局 Wasserstein, Melissa P.; Andriola, Mary; Arnold, Georgianne; Aron, Alan; Duffner, Patricia; Erbe, Richard W.; Escolar, Maria L.; Estrella, Lissette; Galvin-Parton, Patricia; Iglesias, Alejandro; Kay, Denise M.; Kronn, David E.; Kurtzberg, Joanne; Kwon, Jennifer M.; Langan, Thomas J.; Levy, Paul A.; Naidich, Thomas P.; Orsini, Joseph J.; Pellegrino, Joan E.; Provenzale, James M.; Wenger, David A.; Caggana, Michele 分享 收藏
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database Pena, Loren D. M.; van Calcar, Sandra C.; Hansen, Joyanna; Edick, Mathew J.; Vockley, Cate Walsh; Leslie, Nancy; Cameron, Cynthia; Mohsen, Al-Walid; Berry, Susan A.; Arnold, Georgianne L.; Vockley, Jerry 分享 收藏
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schuetz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Moller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nuernberg, Peter; Thiele, Holger; Kurlemann, Gerhard; Arnold, Georgianne L.; Bhambhani, Vikas; Bartholdi, Deborah; Pedurupillay, Christeen Ramane J.; Misceo, Doriana; Frengen, Eirik; Stromme, Petter; Dlugos, Dennis J.; Doherty, Emily S.; Bijlsma, Emilia K.; Ruivenkamp, Claudia A.; Hoffer, Mariette J. V.; Goldstein, Amy; Rajan, Deepa S.; Narayanan, Vinodh; Ramsey, Keri; Belnap, Newell; Schrauwen, Isabelle; Richholt, Ryan; Koeleman, Bobby P. C.; Sa, Joaquim; Mendonca, Carla; de Kovel, Carolien G. F.; Weckhuysen, Sarah; Hardies, Katia; De Jonghe, Peter; De Meirleir, Linda; Milh, Mathieu; Badens, Catherine; Lebrun, Marine; Busa, Tiffany; Francannet, Christine; Piton, Amelie; Riesch, Erik; Biskup, Saskia; Vogt, Heinrich; Dorn, Thomas; Helbig, Ingo; Michaud, Jacques L.; Laube, Bodo; Syrbe, Steffen 分享 收藏
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Newborn screening for Krabbe disease in New York State: the first eight years' experience 纽约州Krabbe病的新生儿筛查: 前八年的经验 Orsini, Joseph J.; Kay, Denise M.; Saavedra-Matiz, Carlos A.; Wenger, David A.; Duffner, Patricia K.; Erbe, Richard W.; Biski, Chad; Martin, Monica; Krein, Lea M.; Nichols, Matthew; Kurtzberg, Joanne; Escolar, Maria L.; Adams, Darius J.; Arnold, Georgianne L.; Iglesias, Alejandro; Galvin-Parton, Patricia; Kronn, David F.; Kwon, Jennifer M.; Levy, Paul A.; Pellegrino, Joan E.; Shur, Natasha; Wasserstein, Melissa P.; Caggana, Michele 分享 收藏
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Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening Arnold, Georgianne L.; Salazar, Denise; Neidich, Julie A.; Suwannarat, Pim; Graham, Brett H.; Lichter-Konecki, Uta; Bosch, Annet M.; Cusmano-Ozog, Kristina; Enns, Greg; Wright, Erica L.; Lanpher, Brendan C.; Owen, Natalie N.; Lipson, Mark H.; Cerone, Roberto; Levy, Paul; Wong, Lee-Jun C.; Dezsofi, Antal 分享 收藏
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