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Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction (vol 144, 109049, 2025) 遗传分析与多模态成像证实 m.12148 T>C 线粒体变异的致病性导致多系统功能障碍 (vol 144, 109049, 2025) Belle, Kinsley; Kreymerman, Alexander; Young, Jill L.; Vadgama, Nirmal; Ji, Marco H.; Randhawa, Sandeep; Caicedo, Juan; Wong, Megan; Muscat, Stephanie P.; Gifford, Casey A.; Lee, Richard T.; Nasir, Jamal; Enns, Gregory M.; Karakikes, Ioannis; Schaefer, Andrew M.; Taylor, Robert W.; Mercola, Mark; Koeberl, Dwight; Wood, Edward H. 分享 收藏
Genetic analysis and multimodal imaging confirm m.12148 T> C mitochondrial variant pathogenicity leading to multisystem dysfunction 遗传分析和多峰成像证实m.12148t> C线粒体变异致病性导致多系统功能障碍 Belle, Kinsley; Kreymerman, Alexander; Young, Jill L.; Vadgama, Nirmal; Ji, Marco H.; Randhawa, Sandeep; Caicedo, Juan; Wong, Megan; Muscat, Stephanie P.; Gifford, Casey A.; Lee, Richard T.; Nasir, Jamal; Enns, Gregory M.; Karakikes, Ioannis; Schaefer, Andrew M.; Taylor, Robert W.; Mercola, Mark; Koeberl, Dwight; Wood, Edward H. 分享 收藏
High prevalence of hepatic fibrosis in liver tissue from individuals with argininosuccinate lyase deficiency Burrage, Lindsay; Ali, Saima; Nisar, Aisha; Quan, Thu; Aceves, Nathalie; Shneider, Benjamin; Leung, Daniel; Nagamani, Sandesh; Enns, Gregory; Jain, Shilpa; Goss, John; Hazard, Florette; Schady, Deborah 分享 收藏
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Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial Russo, Rossana Sanchez; Gasperini, Serena; Bubb, Gillian; Neuman, Linda; Sloan, Leslie S.; Diaz, George A.; Enns, Gregory M. 分享 收藏
Characteristics and management of US pediatric patients with Gaucher disease from the Gaucher Outcome Survey Goker-Alpan, Ozlem; Burrow, Andrew; Enns, Gregory M.; Ficicioglu, Can; Kishnani, Priya S.; Ortiz, Damara; Prada, Carlos E.; Vats, Divya; Weinreb, Neal J.; Robinson, Ian; Pathak, Ravi R.; Wright, Ekaterina; Botha, Jaco; Wilcox, William R. 分享 收藏
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation ACADVL变体解释的ACMG/AMP指南规范 Flowers, May; Dickson, Alexa; Miller, Marcus J.; Spector, Elaine; Enns, Gregory Mark; Baudet, Heather; Pasquali, Marzia; Racacho, Lemuel; Sadre-Bazzaz, Kianoush; Wen, Ting; Fogarty, Melissa; Fernandez, Raquel; Weaver, Meredith A.; Feigenbaum, Annette; Graham, Brett H.; Mao, Rong 分享 收藏
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy The MMPOWER-3 Randomized Clinical Trial Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce H.; Enns, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne Siobhan; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russell; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Brown, David A.; Shiffer, James A.; Mancuso, Michelango 分享 收藏
ACMG STATEMENT Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) Pena, Loren D. M.; Burrage, Lindsay C.; Enns, Gregory M.; Esplin, Edward D.; Harding, Cary; Mendell, Jerry R.; Niu, Zhiyv (Neal); Scharfe, Curt; Yu, Timothy; Koeberl, Dwight D. 分享 收藏
A Phase 1 Study of Oral Vitamin D3 in Boys and Young Men With X-Linked Adrenoleukodystrophy X连锁肾上腺脑白质营养不良男孩和年轻男性口服维生素D3的1期研究 Van Haren, Keith P.; Cunanan, Kristen; Awani, Avni; Gu, Meng; Pena, Dalia; Chromik, Lindsay C.; Povazan, Michal; Rossi, Nicole C.; Goodman, Jordan; Sundaram, Vandana; Winterbottom, Jennifer; Raymond, Gerald, V; Cowan, Tina; Enns, Gregory M.; Waubant, Emmanuelle; Steinman, Lawrence; Barker, Peter B.; Spielman, Daniel; Fatemi, Ali 分享 收藏
BIOCHEMICAL, MOLECULAR, AND CLINICAL CHARACTERISTICS OF PEROXISOMAL DISORDERS DETECTED BY CALIFORNIA NEWBORN SCREENING (NBS) PROGRAM Beltran, Carlos Mares; Abdenur, Jose; Chang, Richard; Barrick, Rebekah; Spongberg, Rebecca; Tise, Christina G.; Niehaus, Annie D.; Enns, Gregory 分享 收藏
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Biochem for the Win! The added value of biochemical genetic testing for diagnosis and variant interpretation in the genomic era Tise, Christina; Grand, Katheryn; Corado, Jose Morales; Gates, Ryan; Graham, John; Enns, Gregory; Gomez-Ospina, Natalia; Mak, Justin; Cowan, Tina; Cusmano-Ozog, Kristina 分享 收藏
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Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) Kripps, Kimberly A.; Nakayuenyongsuk, Warapan; Shayota, Brian J.; Berquist, William; Gomez-Ospina, Natalia; Esquivel, Carlos O.; Concepcion, Waldo; Sampson, Jacinda B.; Cristin, David J.; Jackson, Whitney E.; Gilliland, Samuel; Pomfret, Elizabeth A.; Kueht, Michael L.; Pettit, Rowland W.; Sherif, Youmna A.; Emrick, Lisa T.; Elsea, Sarah H.; Himes, Ryan; Hirano, Michio; Van Hove, Johan L. K.; Scaglia, Fernando; Enns, Gregory M.; Larson, Austin A. 分享 收藏
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