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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
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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3
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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4
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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5
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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6
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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7
Genetic continuity after the collapse of the Wari empire: Mitochondrial DNA profiles from Wari and post-Wari populations in the ancient Andes
Genetic continuity after the collapse of the Wari empire: Mitochondrial DNA profiles from Wari and post-Wari populations in the ancient Andes
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Genetic continuity after the collapse of the Wari empire: Mitochondrial DNA profiles from Wari and post-Wari populations in the ancient Andes

Kemp, Brian M. ; Tung, Tiffiny A. ; Summar, Marshall L.

American journal of physical anthropology, 2009-09, Vol.140 (1), p.80-91 [Periódico revisado por pares]

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

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8
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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9
Propionic acidemia: To liver transplant or not to liver transplant?
Propionic acidemia: To liver transplant or not to liver transplant?
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Propionic acidemia: To liver transplant or not to liver transplant?

Chapman, Kimberly A. ; Summar, Marshall L. ; Enns, Gregory M.

Pediatric transplantation, 2012-05, Vol.16 (3), p.209-210 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases
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Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases

Mitchell, Sabrina ; Ellingson, Clint ; Coyne, Thomas ; Hall, Lynn ; Neill, Meaghan ; Christian, Natalie ; Higham, Catherine ; Dobrowolski, Steven F ; Tuchman, Mendel ; Summar, Marshall

Human mutation, 2009, Vol.30 (1), p.56-60 [Periódico revisado por pares]

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

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