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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
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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2
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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3
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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4
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations
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Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

Häberle, 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, Marshall

Human mutation, 2011-06, Vol.32 (6), p.579-589 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
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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6
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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7
Biochemical markers and neuropsychological functioning in distal urea cycle disorders
Biochemical markers and neuropsychological functioning in distal urea cycle disorders
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Biochemical markers and neuropsychological functioning in distal urea cycle disorders

Waisbren, Susan E. ; Cuthbertson, David ; Burgard, Peter ; Holbert, Amy ; McCarter, Robert ; Cederbaum, Stephen

Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.657-667 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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8
Effects of Meals High in Carbohydrate, Protein, and Fat on Ghrelin and Peptide YY Secretion in Prepubertal Children
Effects of Meals High in Carbohydrate, Protein, and Fat on Ghrelin and Peptide YY Secretion in Prepubertal Children
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Effects of Meals High in Carbohydrate, Protein, and Fat on Ghrelin and Peptide YY Secretion in Prepubertal Children

Lomenick, Jefferson P ; Melguizo, Maria S ; Mitchell, Sabrina L ; Summar, Marshall L ; Anderson, James W

The journal of clinical endocrinology and metabolism, 2009-11, Vol.94 (11), p.4463-4471 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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9
Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery: Potential therapy for postoperative pulmonary hypertension
Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery: Potential therapy for postoperative pulmonary hypertension
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Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery: Potential therapy for postoperative pulmonary hypertension

Barr, Frederick E., MD, MSci ; Tirona, Rommel G., PhD ; Taylor, Mary B., MD, MSci ; Rice, Geraldine, RN, BSN ; Arnold, Judith, RN, BSN ; Cunningham, Gary, MS ; Smith, Heidi A.B., MD, MSci ; Campbell, Adam, BS ; Canter, Jeffrey A., MD, MPH ; Christian, Karla G., MD ; Drinkwater, Davis C., MD ; Scholl, Frank, MD ; Kavanaugh-McHugh, Ann, MD ; Summar, Marshall L., MD

The Journal of thoracic and cardiovascular surgery, 2007-08, Vol.134 (2), p.319-326 [Periódico revisado por pares]

Philadelphia, PA: Mosby, Inc

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10
Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma
Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma
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Genetic variants of GSNOR and ADRB2 influence response to albuterol in African-American children with severe asthma

Moore, Paul E. ; Ryckman, Kelli K. ; Williams, Scott M. ; Patel, Neal ; Summar, Marshall L. ; Sheller, James R.

Pediatric pulmonology, 2009-07, Vol.44 (7), p.649-654 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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