Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related DisordersSummar, Marshall L ; Mew, Nicholas AhThe Pediatric clinics of North America, 2018-04, Vol.65 (2), p.231 [Periódico revisado por pares]United StatesTexto completo disponível |
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2 |
Material Type: Artigo
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Shift work in nurses: contribution of phenotypes and genotypes to adaptationGamble, Karen L ; Motsinger-Reif, Alison A ; Hida, Akiko ; Borsetti, Hugo M ; Servick, Stein V ; Ciarleglio, Christopher M ; Robbins, Sam ; Hicks, Jennifer ; Carver, Krista ; Hamilton, Nalo ; Wells, Nancy ; Summar, Marshall L ; McMahon, Douglas G ; Johnson, Carl Hirschie Goel, NamniPloS one, 2011-04, Vol.6 (4), p.e18395 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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3 |
Material Type: Artigo
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The incidence of urea cycle disordersSummar, Marshall L. ; Koelker, Stefan ; Freedenberg, Debra ; Le Mons, Cynthia ; Haberle, Johannes ; Lee, Hye-Seung ; Kirmse, BrianMolecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.179-180 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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4 |
Material Type: Artigo
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Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodesSummar, Marshall L ; Dobbelaere, Dries ; Brusilow, Saul ; Lee, BrendanActa Paediatrica, 2008-10, Vol.97 (10), p.1420-1425 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduriaWongkittichote, Parith ; Cunningham, Gary ; Summar, Marshall L. ; Pumbo, Elena ; Forny, Patrick ; Baumgartner, Matthias R. ; Chapman, Kimberly A.Molecular genetics and metabolism, 2019-12, Vol.128 (4), p.444-451 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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6 |
Material Type: Artigo
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Infectious Precipitants of Acute Hyperammonemia Are Associated with Indicators of Increased Morbidity in Patients with Urea Cycle DisordersMcGuire, Peter J., MS, MD ; Lee, Hye-Seung, PhD ; Summar, Marshall L., MD, PhDThe Journal of pediatrics, 2013-12, Vol.163 (6), p.1705-1710.e1 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening dataChapman, Kimberly A. ; Gramer, Gwendolyn ; Viall, Sarah ; Summar, Marshall L.Molecular genetics and metabolism reports, 2018-06, Vol.15, p.106-109 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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8 |
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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9 |
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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10 |
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 |