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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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2
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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3
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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4
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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5
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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6
Cross-sectional multicenter study of patients with urea cycle disorders in the United States
Cross-sectional multicenter study of patients with urea cycle disorders in the United States
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Cross-sectional multicenter study of patients with urea cycle disorders in the United States

Tuchman, 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 Inc

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7
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Kölker, Stefan ; Valayannopoulos, Vassili ; Burlina, Alberto B. ; Sykut-Cegielska, Jolanta ; Wijburg, Frits A. ; Teles, Elisa Leão ; Zeman, Jiri ; Dionisi-Vici, Carlo ; Barić, Ivo ; Karall, Daniela ; Arnoux, Jean-Baptiste ; Avram, Paula ; Baumgartner, Matthias R. ; Blasco-Alonso, Javier ; Boy, S. P. Nikolas ; Rasmussen, Marlene Bøgehus ; Burgard, Peter ; Chabrol, Brigitte ; Chakrapani, Anupam ; Chapman, Kimberly ; Cortès i Saladelafont, Elisenda ; Couce, Maria L. ; de Meirleir, Linda ; Dobbelaere, Dries ; Furlan, Francesca ; Gleich, Florian ; González, Maria Julieta ; Gradowska, Wanda ; Grünewald, Stephanie ; Honzik, Tomas ; Hörster, Friederike ; Ioannou, Hariklea ; Jalan, Anil ; Häberle, Johannes ; Haege, Gisela ; Langereis, Eveline ; de Lonlay, Pascale ; Martinelli, Diego ; Matsumoto, Shirou ; Mühlhausen, Chris ; Murphy, Elaine ; de Baulny, Hélène Ogier ; Ortez, Carlos ; Pedrón, Consuelo C. ; Pintos-Morell, Guillem ; Pena-Quintana, Luis ; Ramadža, Danijela Petković ; Rodrigues, Esmeralda ; Scholl-Bürgi, Sabine ; Sokal, Etienne ; Summar, Marshall L. ; Thompson, Nicholas ; Vara, Roshni ; Pinera, Inmaculada Vives ; Walter, John H. ; Williams, Monique ; Lund, Allan M. ; Garcia Cazorla, Angeles

Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1059-1074 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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8
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
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The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Kölker, Stefan ; Cazorla, Angeles Garcia ; Valayannopoulos, Vassili ; Lund, Allan M. ; Burlina, Alberto B. ; Sykut-Cegielska, Jolanta ; Wijburg, Frits A. ; Teles, Elisa Leão ; Zeman, Jiri ; Dionisi-Vici, Carlo ; Barić, Ivo ; Karall, Daniela ; Augoustides-Savvopoulou, Persephone ; Aksglaede, Lise ; Arnoux, Jean-Baptiste ; Avram, Paula ; Baumgartner, Matthias R. ; Blasco-Alonso, Javier ; Chabrol, Brigitte ; Chakrapani, Anupam ; Chapman, Kimberly ; i Saladelafont, Elisenda Cortès ; Couce, Maria L. ; de Meirleir, Linda ; Dobbelaere, Dries ; Dvorakova, Veronika ; Furlan, Francesca ; Gleich, Florian ; Gradowska, Wanda ; Grünewald, Stephanie ; Jalan, Anil ; Häberle, Johannes ; Haege, Gisela ; Lachmann, Robin ; Laemmle, Alexander ; Langereis, Eveline ; de Lonlay, Pascale ; Martinelli, Diego ; Matsumoto, Shirou ; Mühlhausen, Chris ; de Baulny, Hélène Ogier ; Ortez, Carlos ; Peña-Quintana, Luis ; Ramadža, Danijela Petković ; Rodrigues, Esmeralda ; Scholl-Bürgi, Sabine ; Sokal, Etienne ; Staufner, Christian ; Summar, Marshall L. ; Thompson, Nicholas ; Vara, Roshni ; Pinera, Inmaculada Vives ; Walter, John H. ; Williams, Monique ; Burgard, Peter

Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1041-1057 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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9
Targeted Echocardiographic Screening for Latent Rheumatic Heart Disease in Northern Uganda: Evaluating Familial Risk Following Identification of an Index Case
Targeted Echocardiographic Screening for Latent Rheumatic Heart Disease in Northern Uganda: Evaluating Familial Risk Following Identification of an Index Case
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Targeted Echocardiographic Screening for Latent Rheumatic Heart Disease in Northern Uganda: Evaluating Familial Risk Following Identification of an Index Case

Aliku, Twalib ; Sable, Craig ; Scheel, Amy ; Tompsett, Alison ; Lwabi, Peter ; Okello, Emmy ; McCarter, Robert ; Summar, Marshall ; Beaton, Andrea Vinetz, Joseph M.

PLoS neglected tropical diseases, 2016-06, Vol.10 (6), p.e0004727-e0004727 [Periódico revisado por pares]

United States: Public Library of Science

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10
Folic acid, either solely or combined with L‐citrulline, improves NO signaling and ameliorates chronic hypoxia‐induced pulmonary hypertension in newborn pigs
Folic acid, either solely or combined with L‐citrulline, improves NO signaling and ameliorates chronic hypoxia‐induced pulmonary hypertension in newborn pigs
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Folic acid, either solely or combined with L‐citrulline, improves NO signaling and ameliorates chronic hypoxia‐induced pulmonary hypertension in newborn pigs

Douglass, Matthew ; Dikalova, Anna ; Kaplowitz, Mark R. ; Zhang, Yongmei ; Cunningham, Gary ; Summar, Marshall ; Fike, Candice D.

Physiological reports, 2021-11, Vol.9 (21), p.e15096-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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