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Cardiovascular disease in adults with osteogenesis imperfecta: clinical characteristics, care recommendations, and research priorities identified using a modified Delphi technique Folkestad, Lars; Prakash, Siddharth K.; Nagamani, Sandesh C. S.; Andersen, Niels Holmark; Carter, Erin; Hald, Jannie Dahl; Johnson, Riley J.; Langdahl, Bente; Perfetto, Eleanor M.; Raggio, Cathleen; Ralston, Stuart H.; Sandhaus, Robert A.; Semler, Oliver; Tosi, Laura; Orwoll, Eric Share Save
The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERIC/SOX9-dependent osteoprogenitor differentiation defect Marom, Ronit; Song, I. -Wen; Busse, Emily C.; Washington, Megan E.; Berrier, Ava S.; Rossi, Vittoria C.; Ortinau, Laura; Jeong, Youngjae; Jiang, Ming-Ming; Dawson, Brian C.; Adeyeye, Mary; Leynes, Carolina; Lietman, Caressa D.; Stroup, Bridget M.; Batkovskyte, Dominyka; Jain, Mahim; Chen, Yuqing; Cela, Racel; Castellon, Alexis; Tran, Alyssa A.; Lorenzo, Isabel; Meyers, D. Nicole; Huang, Shixia; Turner, Alicia; Shenava, Vinitha; Wallace, Maegen; Orwoll, Eric; Park, Dongsu; Ambrose, Catherine G.; Nagamani, Sandesh C. S.; Heaney, Jason D.; Lee, Brendan H. Share Save
Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood Hald, Jannie Dahl; Langdahl, Bente; Folkestad, Lars; Wekre, Lena Lande; Johnson, Riley; Nagamani, Sandesh C. S.; Raggio, Cathleen; Ralston, Stuart H.; Semler, Oliver; Tosi, Laura; Orwoll, Eric Share Save
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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 Share Save
Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression Kho, Jordan; Polak, Urszula; Jiang, Ming-Ming; Odom, John D.; Hunter, Jill V.; Ali, Saima M.; Burrage, Lindsay C.; Nagamani, Sandesh C. S.; Pautler, Robia G.; Thompson, Hannah P.; Urayama, Akihiko; Jin, Zixue; Lee, Brendan Share Save
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Targeting TGF-β for treatment of osteogenesis imperfecta Song, I-Wen; Nagamani, Sandesh Cs; Nguyen, Dianne; Grafe, Ingo; Sutton, Vernon Reid; Gannon, Francis H.; Munivez, Elda; Jiang, Ming-Ming; Tran, Alyssa; Wallace, Maegen; Esposito, Paul; Musaad, Salma; Strudthoff, Elizabeth; McGuire, Sharon; Thornton, Michele; Shenava, Vinitha; Rosenfeld, Scott; Huang, Shixia; Shypailo, Roman; Orwoll, Eric; Lee, Brendan Share Save
A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers (vol 20, pg 708, 2018) Nagamani, Sandesh C. S.; Agarwal, Umang; Tam, Allison; Azamian, Mahshid; McMeans, Ann; Didelija, Inka C.; Mohammad, Mahmoud A.; Marini, Juan C. Share Save
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Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation Jin, Zixue; Kho, Jordan; Dawson, Brian; Jiang, Ming-Ming; Chen, Yuqing; Ali, Saima; Burrage, Lindsay C.; Grover, Monica; Palmer, Donna J.; Turner, Dustin L.; Ng, Philip; Nagamani, Sandesh C. S.; Lee, Brendan Share Save
Widespread disturbance in extracellular matrix collagen biomarker responses to teriparatide therapy in osteogenesis imperfecta Nicol, Lindsey; Srikanth, Priya; Henriksen, Kim; Sun, Shu; Smith, Rosamund; Karsdal, Morten A.; Nagamani, Sandesh C. S.; Shapiro, Jay; Lee, Brendan; Leder, Benjamin Z.; Orwoll, Eric Share Save
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders Posset, Roland; Koelker, Stefan; Gleich, Florian; Okun, Jurgen G.; Gropman, Andrea L.; Nagamani, Sandesh C. S.; Scharre, Svenja; Probst, Joris; Walter, Magdalena E.; Hoffmann, Georg F.; Garbade, Sven F.; Zielonka, Matthias Share Save
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders Posset, Roland; Garbade, Sven F.; Gleich, Florian; Gropman, Andrea L.; de Lonlay, Pascale; Hoffmann, Georg F.; Garcia-Cazorla, Angeles; Nagamani, Sandesh C. S.; Baumgartner, Matthias R.; Schulze, Andreas; Dobbelaere, Dries; Yudkoff, Marc; Koelker, Stefan; Zielonka, Matthias Share Save
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Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency Burrage, Lindsay C.; Madan, Simran; Li, Xiaohui; Ali, Saima; Mohammad, Mahmoud; Stroup, Bridget M.; Jiang, Ming-Ming; Cela, Racel; Bertin, Terry; Jin, Zixue; Dai, Jian; Guffey, Danielle; Finegold, Milton; Nagamani, Sandesh; Minard, Charles G.; Marini, Juan; Masand, Prakash; Schady, Deborah; Shneider, Benjamin L.; Leung, Daniel H.; Bali, Deeksha; Lee, Brendan Share Save
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