Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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11 |
Material Type: Artigo
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A longitudinal study of urea cycle disordersBatshaw, Mark L. ; Tuchman, Mendel ; Summar, Marshall ; Seminara, JenniferMolecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.127-130 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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12 |
Material Type: Artigo
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Current strategies for the management of neonatal urea cycle disordersSummar, MarshallThe Journal of pediatrics, 2001-01, Vol.138 (1), p.S30-S39 [Periódico revisado por pares]New York, NY: Mosby, IncTexto completo disponível |
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13 |
Material Type: Artigo
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Low plasma citrulline levels are associated with acute respiratory distress syndrome in patients with severe sepsisWare, Lorraine B ; Magarik, Jordan A ; Wickersham, Nancy ; Cunningham, Gary ; Rice, Todd W ; Christman, Brian W ; Wheeler, Arthur P ; Bernard, Gordon R ; Summar, Marshall LCritical care (London, England), 2013-01, Vol.17 (1), p.R10-R10 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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14 |
Material Type: Artigo
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A novel small molecule approach for the treatment of propionic and methylmalonic acidemiasArmstrong, Allison J. ; Collado, Maria Sol ; Henke, Brad R. ; Olson, Matthew W. ; Hoang, Stephen A. ; Hamilton, Christin A. ; Pourtaheri, Taylor D. ; Chapman, Kimberly A. ; Summar, Marshall M. ; Johns, Brian A. ; Wamhoff, Brian R. ; Reardon, John E. ; Figler, Robert A.Molecular genetics and metabolism, 2021-05, Vol.133 (1), p.71-82 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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15 |
Material Type: Artigo
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Natural history of propionic acidemiaPena, Loren ; Franks, Jill ; Chapman, Kimberly A. ; Gropman, Andrea ; Ah Mew, Nicholas ; Chakrapani, Anupam ; Island, Eddie ; MacLeod, Erin ; Matern, Dietrich ; Smith, Brittany ; Stagni, Kathy ; Sutton, V. Reid ; Ueda, Keiko ; Urv, Tiina ; Venditti, Charles ; Enns, Gregory M. ; Summar, Marshall L.Molecular genetics and metabolism, 2012-01, Vol.105 (1), p.5-9 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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16 |
Material Type: Artigo
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A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblingsLi, Zejuan ; Schonberg, Rhonda ; Guidugli, Lucia ; Johnson, Amy Knight ; Arnovitz, Stephen ; Yang, Sandra ; Scafidi, Joseph ; Summar, Marshall L ; Vezina, Gilbert ; Das, Soma ; Chapman, Kimberly ; del Gaudio, DanielaJournal of human genetics, 2015-07, Vol.60 (7), p.363-369 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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17 |
Material Type: Artigo
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Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerationsHäberle, Johannes ; Shchelochkov, Oleg A. ; Wang, Jing ; Katsonis, Panagiotis ; Hall, Lynn ; Reiss, Sara ; Eeds, Angela ; Willis, Alecia ; Yadav, Meeta ; Summar, Samantha ; Lichtarge, Olivier ; Rubio, Vicente ; Wong, Lee-Jun ; Summar, MarshallHuman mutation, 2011-06, Vol.32 (6), p.579-589 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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18 |
Material Type: Artigo
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On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic DiseasesSummar, Marshall L. ; Endo, Fumio ; Kölker, StefanMolecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.105-108 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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19 |
Material Type: Artigo
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Cross-sectional multicenter study of patients with urea cycle disorders in the United StatesTuchman, Mendel ; Lee, Brendan ; Lichter-Konecki, Uta ; Summar, Marshall L. ; Yudkoff, Marc ; Cederbaum, Stephen D. ; Kerr, Douglas S. ; Diaz, George A. ; Seashore, Margaretta R. ; Lee, Hye-Seung ; McCarter, Robert J. ; Krischer, Jeffrey P. ; Batshaw, Mark L.Molecular genetics and metabolism, 2008-08, Vol.94 (4), p.397-402 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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20 |
Material Type: Artigo
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Acute management of propionic acidemiaChapman, Kimberly A. ; Gropman, Andrea ; MacLeod, Erin ; Stagni, Kathy ; Summar, Marshall L. ; Ueda, Keiko ; Mew, Nicholas Ah ; Franks, Jill ; Island, Eddie ; Matern, Dietrich ; Pena, Loren ; Smith, Brittany ; Sutton, V. Reid ; Urv, Tiina ; Venditti, Charles ; Chakrapani, AnupamMolecular genetics and metabolism, 2012-01, Vol.105 (1), p.16-25 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |