Severe Pulmonary Hypertension as the Debut of Metabolic Disease
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Published in: | Archivos de bronconeumología (English ed.) Vol. 56; no. 12; pp. 820 - 821 |
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Main Authors: | , , , , , , |
Format: | Journal Article |
Language: | English |
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Elsevier España, S.L.U
01-12-2020
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Author | Prada Martínez, Fredy Hermógenes Segura Matute, Susana Estepa Pedregosa, Lorena Cambra Lasaosa, Francisco José García Cazorla, Àngels Guitart Pardellans, Carmina Baucells Lokyer, Benjamin Jaume |
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Author_xml | – sequence: 1 givenname: Lorena surname: Estepa Pedregosa fullname: Estepa Pedregosa, Lorena organization: Unidad de Cuidados Intensivos Pediátricos (UCIP), Hospital Universitario Puerta del Mar, Cádiz, Spain – sequence: 2 givenname: Carmina surname: Guitart Pardellans fullname: Guitart Pardellans, Carmina email: cguitart@sjdhospitalbarcelona.org organization: Unidad de Cuidados Intensivos Pediátricos (UCIP), Hospital Sant Joan de Déu. Institut de Recerca H. Sant Joan de Déu, Barcelona, Spain – sequence: 3 givenname: Benjamin Jaume surname: Baucells Lokyer fullname: Baucells Lokyer, Benjamin Jaume organization: Servicio de Pediatría, Hospital Sant Joan de Déu. Institut de Recerca H. Sant Joan de Déu, Barcelona, Spain – sequence: 4 givenname: Fredy Hermógenes surname: Prada Martínez fullname: Prada Martínez, Fredy Hermógenes organization: Departamento de Cardiología, Hospital Sant Joan de Déu. Institut de Recerca H. Sant Joan de Déu, Barcelona, Spain – sequence: 5 givenname: Àngels surname: García Cazorla fullname: García Cazorla, Àngels organization: Departamento de Genética y Medicina Molecular, Hospital Sant Joan de Déu y CIBERER, Barcelona, Spain – sequence: 6 givenname: Francisco José surname: Cambra Lasaosa fullname: Cambra Lasaosa, Francisco José organization: Unidad de Cuidados Intensivos Pediátricos (UCIP), Hospital Sant Joan de Déu. Institut de Recerca H. Sant Joan de Déu, Barcelona, Spain – sequence: 7 givenname: Susana surname: Segura Matute fullname: Segura Matute, Susana organization: Unidad de Cuidados Intensivos Pediátricos (UCIP), Hospital Sant Joan de Déu. Institut de Recerca H. Sant Joan de Déu, Barcelona, Spain |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/32792169$$D View this record in MEDLINE/PubMed |
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Cites_doi | 10.1007/s10545-012-9565-z 10.1016/j.jpeds.2012.04.044 10.1016/j.jmb.2017.01.021 10.1016/j.ymgme.2017.08.001 10.1016/j.ajhg.2011.10.005 10.3389/fgene.2014.00412 10.1055/s-0037-1606295 10.1164/rccm.201406-1052OC 10.1016/j.arbres.2017.11.014 10.3389/fgene.2015.00123 10.1016/j.mito.2014.01.003 |
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References | De Souza, Bortholin, Burlin, Naylor, Pinto, Oliveira (bib0055) 2018; 7 Ferrer-Cortés, Font, Bujan, Navarro-Sastre, Matalonga, Arranz (bib0040) 2013; 36 Wachnowsky, Wesley, Fidai, Cowan (bib0050) 2017; 429 Menéndez Suso, del Cerro Marín, Dorao Martínez-Romillo, Labrandero de Lera, Fernández García-Moya, Rodríguez González (bib0015) 2012; 161 Del Cerro Marín, Sabaté Rotés, Rodriguez Orgando, Mendoza Soto, Quero Jiménez, Gavilán Camacho (bib0005) 2014; 190 Ahting, Mayr, Vanlander, Hardy, Santra, Makowski (bib0020) 2015; 6 Navarro-Sastre, Tort, Stehling, Uzarska, Arranz, Del Toro (bib0010) 2011; 89 Invernizzi, Ardissone, Lamantea, Garavaglia, Zeviani, Farina (bib0025) 2014; 5 Barberà, Román, Gómez-Sánchez, Blanco, Otero, López-Reyes (bib0035) 2018; 54 Nizon, Boutron, Boddaert, Slama, Delpech, Sardet (bib0030) 2014; 15 Lebigot, Gaignard, Dorboz, Slama, Rio, de Lonlay (bib0045) 2017; 122 Navarro-Sastre (10.1016/j.arbr.2020.06.009_bib0010) 2011; 89 Invernizzi (10.1016/j.arbr.2020.06.009_bib0025) 2014; 5 De Souza (10.1016/j.arbr.2020.06.009_bib0055) 2018; 7 Del Cerro Marín (10.1016/j.arbr.2020.06.009_bib0005) 2014; 190 Lebigot (10.1016/j.arbr.2020.06.009_bib0045) 2017; 122 Nizon (10.1016/j.arbr.2020.06.009_bib0030) 2014; 15 Wachnowsky (10.1016/j.arbr.2020.06.009_bib0050) 2017; 429 Ferrer-Cortés (10.1016/j.arbr.2020.06.009_bib0040) 2013; 36 Ahting (10.1016/j.arbr.2020.06.009_bib0020) 2015; 6 Barberà (10.1016/j.arbr.2020.06.009_bib0035) 2018; 54 Menéndez Suso (10.1016/j.arbr.2020.06.009_bib0015) 2012; 161 |
References_xml | – volume: 6 start-page: 123 year: 2015 ident: bib0020 article-title: Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency publication-title: Front Genet contributor: fullname: Makowski – volume: 7 start-page: 40 year: 2018 end-page: 42 ident: bib0055 article-title: NFU1-related disorders as key differential diagnosis of cavitating leukoencephalopathy publication-title: J Pediatr Genet contributor: fullname: Oliveira – volume: 161 start-page: 557 year: 2012 end-page: 559 ident: bib0015 article-title: Nonketotic hyperglycinemia presenting as pulmonary hypertensive vascular disease and fatal pulmonary edema in response to pulmonary vasodilator therapy publication-title: J Pediatr contributor: fullname: Rodríguez González – volume: 122 start-page: 85 year: 2017 end-page: 94 ident: bib0045 article-title: Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients publication-title: Mol Genet Metab contributor: fullname: de Lonlay – volume: 429 start-page: 790 year: 2017 end-page: 807 ident: bib0050 article-title: Understanding the molecular basis of multiple mitochondrial dysfunctions syndrome 1 (MMDS1)—impact of a disease-causing Gly208Cys substitution on structure and activity of NFU1 in the Fe/S cluster biosynthetic pathway publication-title: J Mol Biol contributor: fullname: Cowan – volume: 190 start-page: 1421 year: 2014 end-page: 1429 ident: bib0005 article-title: Assessing pulmonary hypertensive vascular disease in childhood data from the Spanish Registry publication-title: Am J Respir Crit Care Med contributor: fullname: Gavilán Camacho – volume: 54 start-page: 205 year: 2018 end-page: 215 ident: bib0035 article-title: Guidelines on the diagnosis and treatment of pulmonary hypertension: summary of recommendations publication-title: Arch Bronconeumol contributor: fullname: López-Reyes – volume: 36 start-page: 841 year: 2013 end-page: 847 ident: bib0040 article-title: Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease publication-title: J Inherit Metab Dis contributor: fullname: Arranz – volume: 15 start-page: 59 year: 2014 end-page: 64 ident: bib0030 article-title: Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1deficiency publication-title: Mitochondrion contributor: fullname: Sardet – volume: 5 start-page: 412 year: 2014 ident: bib0025 article-title: Cavitating leukoencephalopathy with multiple mitocondrial dysfunction síndrome and NFU1mutations publication-title: Front. Genet contributor: fullname: Farina – volume: 89 start-page: 656 year: 2011 end-page: 667 ident: bib0010 article-title: A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe–S proteins publication-title: Am J Hum Genet contributor: fullname: Del Toro – volume: 36 start-page: 841 year: 2013 ident: 10.1016/j.arbr.2020.06.009_bib0040 article-title: Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease publication-title: J Inherit Metab Dis doi: 10.1007/s10545-012-9565-z contributor: fullname: Ferrer-Cortés – volume: 161 start-page: 557 year: 2012 ident: 10.1016/j.arbr.2020.06.009_bib0015 article-title: Nonketotic hyperglycinemia presenting as pulmonary hypertensive vascular disease and fatal pulmonary edema in response to pulmonary vasodilator therapy publication-title: J Pediatr doi: 10.1016/j.jpeds.2012.04.044 contributor: fullname: Menéndez Suso – volume: 429 start-page: 790 year: 2017 ident: 10.1016/j.arbr.2020.06.009_bib0050 article-title: Understanding the molecular basis of multiple mitochondrial dysfunctions syndrome 1 (MMDS1)—impact of a disease-causing Gly208Cys substitution on structure and activity of NFU1 in the Fe/S cluster biosynthetic pathway publication-title: J Mol Biol doi: 10.1016/j.jmb.2017.01.021 contributor: fullname: Wachnowsky – volume: 122 start-page: 85 year: 2017 ident: 10.1016/j.arbr.2020.06.009_bib0045 article-title: Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients publication-title: Mol Genet Metab doi: 10.1016/j.ymgme.2017.08.001 contributor: fullname: Lebigot – volume: 89 start-page: 656 year: 2011 ident: 10.1016/j.arbr.2020.06.009_bib0010 article-title: A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe–S proteins publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2011.10.005 contributor: fullname: Navarro-Sastre – volume: 5 start-page: 412 year: 2014 ident: 10.1016/j.arbr.2020.06.009_bib0025 article-title: Cavitating leukoencephalopathy with multiple mitocondrial dysfunction síndrome and NFU1mutations publication-title: Front. Genet doi: 10.3389/fgene.2014.00412 contributor: fullname: Invernizzi – volume: 7 start-page: 40 year: 2018 ident: 10.1016/j.arbr.2020.06.009_bib0055 article-title: NFU1-related disorders as key differential diagnosis of cavitating leukoencephalopathy publication-title: J Pediatr Genet doi: 10.1055/s-0037-1606295 contributor: fullname: De Souza – volume: 190 start-page: 1421 year: 2014 ident: 10.1016/j.arbr.2020.06.009_bib0005 article-title: Assessing pulmonary hypertensive vascular disease in childhood data from the Spanish Registry publication-title: Am J Respir Crit Care Med doi: 10.1164/rccm.201406-1052OC contributor: fullname: Del Cerro Marín – volume: 54 start-page: 205 year: 2018 ident: 10.1016/j.arbr.2020.06.009_bib0035 article-title: Guidelines on the diagnosis and treatment of pulmonary hypertension: summary of recommendations publication-title: Arch Bronconeumol doi: 10.1016/j.arbres.2017.11.014 contributor: fullname: Barberà – volume: 6 start-page: 123 year: 2015 ident: 10.1016/j.arbr.2020.06.009_bib0020 article-title: Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency publication-title: Front Genet doi: 10.3389/fgene.2015.00123 contributor: fullname: Ahting – volume: 15 start-page: 59 year: 2014 ident: 10.1016/j.arbr.2020.06.009_bib0030 article-title: Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1deficiency publication-title: Mitochondrion doi: 10.1016/j.mito.2014.01.003 contributor: fullname: Nizon |
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Title | Severe Pulmonary Hypertension as the Debut of Metabolic Disease |
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