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Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) 苯丙氨酸羟化酶缺乏症的诊断与管理：美国医学遗传学与基因组学学院（ACMG）2023年循证临床指南 Smith, Wendy E.; Berry, Susan A.; Bloom, Kaitlyn; Brown, Christine; Burton, Barbara K.; Demarest, Olivia M.; Jenkins, Gabrielle P.; Malinowski, Jennifer; Mcbride, Kim L.; Mroczkowski, H. Joel; Scharfe, Curt; Vockley, Jerry 分享 收藏
The clinical challenge of new variants encountered in newborn screening: The example of ASN290ASP in GAA Tortorelli, Silvia; Smith, Wendy; Pillai, Nishitha; Grant, Christina Lee; Kuperman, KeriAnn; Fabie, Noelle; Wright, Erica; Sapp, Katie; Baker, Craig; Keller, Alyssa; Peck, Dawn 分享 收藏
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome White, Susan M.; Bhoj, Elizabeth; Nellaker, Christoffer; Lachmeijer, Augusta M. A.; Marshall, Aren E.; Boycott, Kym M.; Li, Dong; Smith, Wendy; Hartley, Taila; McBride, Arran; Ernst, Michelle E.; May, Alison S.; Wieczorek, Dagmar; Abou Jamra, Rami; Koch-Hogrebe, Margarete; Ounap, Katrin; Pajusalu, Sander; van Gassen, K. L., I; Sadedin, Simon; Ellingwood, Sara; Tan, Tiong Yang; Christodoulou, John; Barea, Jaime; Lockhart, Paul J.; Nezarati, Marjan M.; Kernohan, Kristin D. 分享 收藏
Laboratory monitoring of patients with hereditary tyrosinemia type I Schultz, Matthew J.; Netzel, Brian C.; Singh, Rani H.; Pino, Gisele B.; Gavrilov, Dimitar K.; Oglesbee, Devin; Raymond, Kimiyo M.; Rinaldo, Piero; Tortorelli, Silvia; Smith, Wendy E.; Matern, Dietrich 分享 收藏
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Fountain, Michael D.; Oleson, David S.; Rech, Megan E.; Segebrecht, Lara; Hunter, Jill, V; McCarthy, John M.; Lupo, Philip J.; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A.; Isidor, Bertrand; Le Caignec, Cedric; Saenz, Margarita S.; Pedersen, Robert C.; Morgan, Thomas M.; Pfotenhauer, Jean P.; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L.; Patel, Ankita; Krantz, Ian D.; Raible, Sarah E.; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Milian, Francisca; Wentzensen, Ingrid M.; Person, Richard E.; Kury, Sebastien; Bezieau, Stephane; Uguen, Kevin; Ferec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D.; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L.; Taft, Ryan J.; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F.; Horn, Denise; Spillmann, Rebecca C.; Pena, Loren; Wierzba, Jolanta; Strom, Tim M.; Parenti, Ilaria; Kaiser, Frank J.; Ehmke, Nadja; Schaaf, Christian P. 分享 收藏
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients Diaz, George A.; Schulze, Andreas; Longo, Nicola; Rhead, William; Feigenbaum, Annette; Wong, Derek; Merritt, J. Lawrence, II; Berquist, William; Gallagher, Renata C.; Bartholome, Dennis; McCandless, Shawn E.; Smith, Wendy E.; Harding, Cary O.; Zori, Roberto; Lichter-Konecki, Uta; Vockley, Jerry; Canavan, Colleen; Vescio, Thomas; Holt, Robert J.; Berry, Susan A. 分享 收藏
Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders Berry, Susan A.; Vockley, Jerry; Vinks, Alexander A.; Dong, Min; Diaz, George A.; McCandless, Shawn E.; Smith, Wendy E.; Harding, Cary O.; Zori, Roberto; Ficicioglu, Can; Lichter-Konecki, Uta; Perdok, Renee; Robinson, Beth; Holt, Robert J.; Longo, Nicola 分享 收藏
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2 months to 2 years Berry, Susan A.; Longo, Nicola; Diaz, George A.; McCandless, Shawn E.; Smith, Wendy E.; Harding, Cary O.; Zori, Roberto; Ficicioglu, Can; Lichter-Konecki, Uta; Robinson, Beth; Vockley, Jerry 分享 收藏
Glutamine and hyperammonemic crises in patients with urea cycle disorders Lee, B.; Diaz, G. A.; Rhead, W.; Lichter-Konecki, U.; Feigenbaum, A.; Berry, S. A.; Le Mons, C.; Bartley, J.; Longo, N.; Nagamani, S. C.; Berquist, W.; Gallagher, R. C.; Harding, C. O.; McCandless, S. E.; Smith, W.; Schulze, A.; Marino, M.; Rowell, R.; Coakley, D. F.; Mokhtarani, M.; Scharschmidt, B. F. 分享 收藏
Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials Nagamani, Sandesh C. S.; Diaz, George A.; Rhead, William; Berry, Susan A.; Le Mons, Cynthia; Lichter-Konecki, Uta; Bartley, James; Feigenbaum, Annette; Schulze, Andreas; Longo, Nicola; Berquist, William; Gallagher, Renata; Bartholomew, Dennis; Harding, Cary O.; Korson, Mark S.; McCandless, Shawn E.; Smith, Wendy; Vockley, Jerry; Kronn, David; Zori, Robert; Cederbaum, Stephen; Merritt, J. Lawrence, II; Wong, Derek; Coakley, Dion F.; Scharschmidt, Bruce F.; Dickinson, Klara; Marino, Miguel; Lee, Brendan H.; Mokhtarani, Masoud 分享 收藏
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder Lee, Brendan; Diaz, George A.; Rhead, William; Lichter-Konecki, Uta; Feigenbaum, Annette; Berry, Susan A.; Le Mons, Cindy; Bartley, James A.; Longo, Nicola; Nagamani, Sandesh C.; Berquist, William; Gallagher, Renata; Bartholomew, Dennis; Harding, Cary O.; Korson, Mark S.; McCandless, Shawn E.; Smith, Wendy; Cederbaum, Stephen; Wong, Derek; Merritt, J. Lawrence, II; Schulze, Andreas; Vockley, Gerard; Kronn, David; Zori, Roberto; Summar, Marshall; Milikien, Douglas A.; Marino, Miguel; Coakley, Dion F.; Mokhtarani, Masoud; Scharschmidt, Bruce F. 分享 收藏
Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes Berry, Susan A.; Lichter-Konecki, Uta; Diaz, George A.; McCandless, Shawn E.; Rhead, William; Smith, Wendy; LeMons, Cynthia; Nagamani, Sandesh C. S.; Coakley, Dion F.; Mokhtarani, Masoud; Scharschmidt, Bruce F.; Lee, Brendan 分享 收藏
Phenylalanine hydroxylase deficiency: diagnosis and management guideline 苯丙氨酸羟化酶缺乏症: 诊断和治疗指南 Vockley, Jerry; Andersson, Hans C.; Antshel, Kevin M.; Braverman, Nancy E.; Burton, Barbara K.; Frazier, Dianne M.; Mitchell, John; Smith, Wendy E.; Thompson, Barry H.; Berry, Susan A. 分享 收藏
Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio Mokhtarani, M.; Diaz, G. A.; Rhead, W.; Berry, S. A.; Lichter-Konecki, U.; Feigenbaum, A.; Schulze, A.; Longo, N.; Bartley, J.; Berquist, W.; Gallagher, R.; Smith, W.; McCandless, S. E.; Harding, C.; Rockey, D. C.; Vierling, J. M.; Mantry, P.; Ghabril, M.; Brown, R. S., Jr.; Dickinson, K.; Moors, T.; Norris, C.; Coakley, D.; Milikien, D. A.; Nagamani, S. C.; LeMons, C.; Lee, B.; Scharschmidt, B. F. 分享 收藏
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate Diaz, George A.; Krivitzky, Lauren S.; Mokhtarani, Masoud; Rhead, William; Bartley, James; Feigenbaum, Annette; Longo, Nicola; Berquist, William; Berry, Susan A.; Gallagher, Renata; Lichter-Konecki, Uta; Bartholomew, Dennis; Harding, Cary O.; Cederbaum, Stephen; McCandless, Shawn E.; Smith, Wendy; Vockley, Gerald; Bart, Stephen A.; Korson, Mark S.; Kronn, David; Zori, Roberto; Merritt, J. Lawrence, II; Nagamani, Sandesh C. S.; Mauney, Joseph; LeMons, Cynthia; Dickinson, Klara; Moors, Tristen L.; Coakley, Dion F.; Scharschmidt, Bruce F.; Lee, Brendan 分享 收藏
Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate Smith, Wendy; Diaz, George A.; Lichter-Konecki, Uta; Berry, Susan A.; Harding, Cary O.; McCandless, Shawn E.; LeMons, Cindy; Mauney, Joe; Dickinson, Klara; Coakley, Dion F.; Moors, Tristen; Mokhtarani, Masoud; Scharschmidt, Bruce F.; Lee, Brendan 分享 收藏
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders Mokhtarani, M.; Diaz, G. A.; Rhead, W.; Lichter-Konecki, U.; Bartley, J.; Feigenbaum, A.; Longo, N.; Berquist, W.; Berry, S. A.; Gallagher, R.; Bartholomew, D.; Harding, C. O.; Korson, M. S.; McCandless, S. E.; Smith, W.; Vockley, J.; Bart, P. S.; Kronn, D.; Zori, R.; Cederbaum, S.; Dorrani, N.; Merritt, J. L., II; Sreenath-Nagamani, Sandesh; Summar, M.; LeMons, C.; Dickinson, K.; Coakley, D. F.; Moors, T. L.; Lee, B.; Scharschmidt, B. F. 分享 收藏
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