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Shift work in nurses: contribution of phenotypes and genotypes to adaptation
Shift work in nurses: contribution of phenotypes and genotypes to adaptation
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Shift work in nurses: contribution of phenotypes and genotypes to adaptation

Gamble, 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, Namni

PloS one, 2011-04, Vol.6 (4), p.e18395 [Periódico revisado por pares]

United States: Public Library of Science

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The incidence of urea cycle disorders
The incidence of urea cycle disorders
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The incidence of urea cycle disorders

Summar, Marshall L. ; Koelker, Stefan ; Freedenberg, Debra ; Le Mons, Cynthia ; Haberle, Johannes ; Lee, Hye-Seung ; Kirmse, Brian

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.179-180 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
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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 episodes

Summar, Marshall L ; Dobbelaere, Dries ; Brusilow, Saul ; Lee, Brendan

Acta Paediatrica, 2008-10, Vol.97 (10), p.1420-1425 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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4
Infectious Precipitants of Acute Hyperammonemia Are Associated with Indicators of Increased Morbidity in Patients with Urea Cycle Disorders
Infectious Precipitants of Acute Hyperammonemia Are Associated with Indicators of Increased Morbidity in Patients with Urea Cycle Disorders
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Infectious Precipitants of Acute Hyperammonemia Are Associated with Indicators of Increased Morbidity in Patients with Urea Cycle Disorders

McGuire, Peter J., MS, MD ; Lee, Hye-Seung, PhD ; Summar, Marshall L., MD, PhD

The Journal of pediatrics, 2013-12, Vol.163 (6), p.1705-1710.e1 [Periódico revisado por pares]

United States: Elsevier Inc

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5
A longitudinal study of urea cycle disorders
A longitudinal study of urea cycle disorders
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A longitudinal study of urea cycle disorders

Batshaw, Mark L. ; Tuchman, Mendel ; Summar, Marshall ; Seminara, Jennifer

Molecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.127-130 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Current strategies for the management of neonatal urea cycle disorders
Current strategies for the management of neonatal urea cycle disorders
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Current strategies for the management of neonatal urea cycle disorders

Summar, Marshall

The Journal of pediatrics, 2001-01, Vol.138 (1), p.S30-S39 [Periódico revisado por pares]

New York, NY: Mosby, Inc

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7
Low plasma citrulline levels are associated with acute respiratory distress syndrome in patients with severe sepsis
Low plasma citrulline levels are associated with acute respiratory distress syndrome in patients with severe sepsis
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Low plasma citrulline levels are associated with acute respiratory distress syndrome in patients with severe sepsis

Ware, Lorraine B ; Magarik, Jordan A ; Wickersham, Nancy ; Cunningham, Gary ; Rice, Todd W ; Christman, Brian W ; Wheeler, Arthur P ; Bernard, Gordon R ; Summar, Marshall L

Critical care (London, England), 2013-01, Vol.17 (1), p.R10-R10 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias
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A novel small molecule approach for the treatment of propionic and methylmalonic acidemias

Armstrong, 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 Inc

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9
Natural history of propionic acidemia
Natural history of propionic acidemia
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Natural history of propionic acidemia

Pena, 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 Inc

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10
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
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A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

Li, 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, Daniela

Journal of human genetics, 2015-07, Vol.60 (7), p.363-369 [Periódico revisado por pares]

England: Nature Publishing Group

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