The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.
Identifieur interne : 001609 ( Main/Exploration ); précédent : 001608; suivant : 001610The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.
Auteurs : Nienke M. Ter Haar [Pays-Bas] ; Jerold Jeyaratnam [Pays-Bas] ; Helen J. Lachmann [Royaume-Uni] ; Anna Simon [Pays-Bas] ; Paul A. Brogan [Royaume-Uni] ; Matteo Doglio [Italie] ; Marco Cattalini [Italie] ; Jordi Anton [Espagne] ; Consuelo Modesto [Espagne] ; Pierre Quartier [France] ; Esther Hoppenreijs [Pays-Bas] ; Silvana Martino [Italie] ; Antonella Insalaco [Italie] ; Luca Cantarini [Italie] ; Loredana Lepore [Italie] ; Maria Alessio [Italie] ; Inmaculada Calvo Penades [Espagne] ; Christina Boros [Australie] ; Rita Consolini [Italie] ; Donato Rigante [Italie] ; Ricardo Russo [Argentine] ; Jana Pachlopnik Schmid [Suisse] ; Thirusha Lane [Royaume-Uni] ; Alberto Martini [Italie] ; Nicolino Ruperto [Italie] ; Joost Frenkel [Pays-Bas] ; Marco Gattorno [Italie]Source :
- Arthritis & rheumatology (Hoboken, N.J.) [ 2326-5205 ] ; 2016.
Descripteurs français
- KwdFr :
- Adolescent, Amyloïdose (génétique), Amyloïdose (physiopathologie), Amyloïdose (étiologie), Arthralgie (génétique), Arthralgie (physiopathologie), Arthralgie (étiologie), Arthrite (génétique), Arthrite (physiopathologie), Arthrite (étiologie), Conjonctivite (génétique), Conjonctivite (physiopathologie), Conjonctivite (étiologie), Céphalée (génétique), Céphalée (physiopathologie), Céphalée (étiologie), Diarrhée (génétique), Diarrhée (physiopathologie), Diarrhée (étiologie), Douleur abdominale (génétique), Douleur abdominale (physiopathologie), Douleur abdominale (étiologie), Déficience intellectuelle (génétique), Déficience intellectuelle (physiopathologie), Déficience intellectuelle (étiologie), Déficit en mévalonate kinase (), Déficit en mévalonate kinase (génétique), Déficit en mévalonate kinase (physiopathologie), Enfant, Enfant d'âge préscolaire, Enregistrements, Femelle, Génotype, Humains, Lymphadénopathie (génétique), Lymphadénopathie (physiopathologie), Lymphadénopathie (étiologie), Maladies de la peau (génétique), Maladies de la peau (physiopathologie), Maladies de la peau (étiologie), Maladies du cervelet (génétique), Maladies du cervelet (physiopathologie), Maladies du cervelet (étiologie), Myalgie (génétique), Myalgie (physiopathologie), Myalgie (étiologie), Mâle, Nourrisson, Nouveau-né, Pharyngite (génétique), Pharyngite (physiopathologie), Pharyngite (étiologie), Phosphotransferases (Alcohol Group Acceptor) (génétique), Phénotype, Stomatite aphteuse (génétique), Stomatite aphteuse (physiopathologie), Stomatite aphteuse (étiologie), Uvéite (génétique), Uvéite (physiopathologie), Uvéite (étiologie), Vomissement (génétique), Vomissement (physiopathologie), Vomissement (étiologie), Âge de début, Études rétrospectives.
- MESH :
- génétique : Amyloïdose, Arthralgie, Arthrite, Conjonctivite, Céphalée, Diarrhée, Douleur abdominale, Déficience intellectuelle, Déficit en mévalonate kinase, Lymphadénopathie, Maladies de la peau, Maladies du cervelet, Myalgie, Pharyngite, Phosphotransferases (Alcohol Group Acceptor), Stomatite aphteuse, Uvéite, Vomissement.
- physiopathologie : Amyloïdose, Arthralgie, Arthrite, Conjonctivite, Céphalée, Diarrhée, Douleur abdominale, Déficience intellectuelle, Déficit en mévalonate kinase, Lymphadénopathie, Maladies de la peau, Maladies du cervelet, Myalgie, Pharyngite, Stomatite aphteuse, Uvéite, Vomissement.
- étiologie : Amyloïdose, Arthralgie, Arthrite, Conjonctivite, Céphalée, Diarrhée, Douleur abdominale, Déficience intellectuelle, Lymphadénopathie, Maladies de la peau, Maladies du cervelet, Myalgie, Pharyngite, Stomatite aphteuse, Uvéite, Vomissement.
- Adolescent, Déficit en mévalonate kinase, Enfant, Enfant d'âge préscolaire, Enregistrements, Femelle, Génotype, Humains, Mâle, Nourrisson, Nouveau-né, Phénotype, Âge de début, Études rétrospectives.
English descriptors
- KwdEn :
- Abdominal Pain (etiology), Abdominal Pain (genetics), Abdominal Pain (physiopathology), Adolescent, Age of Onset, Amyloidosis (etiology), Amyloidosis (genetics), Amyloidosis (physiopathology), Arthralgia (etiology), Arthralgia (genetics), Arthralgia (physiopathology), Arthritis (etiology), Arthritis (genetics), Arthritis (physiopathology), Cerebellar Diseases (etiology), Cerebellar Diseases (genetics), Cerebellar Diseases (physiopathology), Child, Child, Preschool, Conjunctivitis (etiology), Conjunctivitis (genetics), Conjunctivitis (physiopathology), Diarrhea (etiology), Diarrhea (genetics), Diarrhea (physiopathology), Female, Genotype, Headache (etiology), Headache (genetics), Headache (physiopathology), Humans, Infant, Infant, Newborn, Intellectual Disability (etiology), Intellectual Disability (genetics), Intellectual Disability (physiopathology), Lymphadenopathy (etiology), Lymphadenopathy (genetics), Lymphadenopathy (physiopathology), Male, Mevalonate Kinase Deficiency (complications), Mevalonate Kinase Deficiency (genetics), Mevalonate Kinase Deficiency (physiopathology), Myalgia (etiology), Myalgia (genetics), Myalgia (physiopathology), Pharyngitis (etiology), Pharyngitis (genetics), Pharyngitis (physiopathology), Phenotype, Phosphotransferases (Alcohol Group Acceptor) (genetics), Registries, Retrospective Studies, Skin Diseases (etiology), Skin Diseases (genetics), Skin Diseases (physiopathology), Stomatitis, Aphthous (etiology), Stomatitis, Aphthous (genetics), Stomatitis, Aphthous (physiopathology), Uveitis (etiology), Uveitis (genetics), Uveitis (physiopathology), Vomiting (etiology), Vomiting (genetics), Vomiting (physiopathology).
- MESH :
- chemical , genetics : Phosphotransferases (Alcohol Group Acceptor).
- complications : Mevalonate Kinase Deficiency.
- etiology : Abdominal Pain, Amyloidosis, Arthralgia, Arthritis, Cerebellar Diseases, Conjunctivitis, Diarrhea, Headache, Intellectual Disability, Lymphadenopathy, Myalgia, Pharyngitis, Skin Diseases, Stomatitis, Aphthous, Uveitis, Vomiting.
- genetics : Abdominal Pain, Amyloidosis, Arthralgia, Arthritis, Cerebellar Diseases, Conjunctivitis, Diarrhea, Headache, Intellectual Disability, Lymphadenopathy, Mevalonate Kinase Deficiency, Myalgia, Pharyngitis, Skin Diseases, Stomatitis, Aphthous, Uveitis, Vomiting.
- physiopathology : Abdominal Pain, Amyloidosis, Arthralgia, Arthritis, Cerebellar Diseases, Conjunctivitis, Diarrhea, Headache, Intellectual Disability, Lymphadenopathy, Mevalonate Kinase Deficiency, Myalgia, Pharyngitis, Skin Diseases, Stomatitis, Aphthous, Uveitis, Vomiting.
- Adolescent, Age of Onset, Child, Child, Preschool, Female, Genotype, Humans, Infant, Infant, Newborn, Male, Phenotype, Registries, Retrospective Studies.
Abstract
Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response to treatment in an international cohort of MKD patients.
DOI: 10.1002/art.39763
PubMed: 27213830
Affiliations:
- Argentine, Australie, Espagne, France, Italie, Pays-Bas, Royaume-Uni, Suisse
- Angleterre, Catalogne, Grand Londres, Gueldre, Latium, Piémont, Toscane, Utrecht (province), Île-de-France
- Barcelone, Londres, Nimègue, Paris, Pise, Rome, Turin, Utrecht
- Université Paris-Descartes, Université de Pise
Links toward previous steps (curation, corpus...)
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Le document en format XML
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South Australia</wicri:regionArea><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Consolini, Rita" sort="Consolini, Rita" uniqKey="Consolini R" first="Rita" last="Consolini">Rita Consolini</name><affiliation wicri:level="4"><nlm:affiliation>Ospedale Santa Chiara, Università di Pisa, Pisa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Ospedale Santa Chiara, Università di Pisa, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region><settlement type="city">Pise</settlement></placeName><orgName type="university">Université de Pise</orgName></affiliation></author><author><name sortKey="Rigante, Donato" sort="Rigante, Donato" uniqKey="Rigante D" first="Donato" last="Rigante">Donato Rigante</name><affiliation wicri:level="3"><nlm:affiliation>Università Cattolica Sacro Cuore, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Università Cattolica Sacro Cuore, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Russo, Ricardo" sort="Russo, Ricardo" uniqKey="Russo R" first="Ricardo" last="Russo">Ricardo Russo</name><affiliation wicri:level="1"><nlm:affiliation>Hospital de Pediatria Juan P. Garrahan, Buenos Aires, Argentina.</nlm:affiliation><country xml:lang="fr">Argentine</country><wicri:regionArea>Hospital de Pediatria Juan P. Garrahan, Buenos Aires</wicri:regionArea><wicri:noRegion>Buenos Aires</wicri:noRegion></affiliation></author><author><name sortKey="Pachlopnik Schmid, Jana" sort="Pachlopnik Schmid, Jana" uniqKey="Pachlopnik Schmid J" first="Jana" last="Pachlopnik Schmid">Jana Pachlopnik Schmid</name><affiliation wicri:level="1"><nlm:affiliation>University Childrens Hospital Zurich, Zurich, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>University Childrens Hospital Zurich, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Lane, Thirusha" sort="Lane, Thirusha" uniqKey="Lane T" first="Thirusha" last="Lane">Thirusha Lane</name><affiliation wicri:level="3"><nlm:affiliation>University College London Medical School, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University College London Medical School, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Martini, Alberto" sort="Martini, Alberto" uniqKey="Martini A" first="Alberto" last="Martini">Alberto Martini</name><affiliation wicri:level="1"><nlm:affiliation>Istituto Giannina Gaslini and Università degli Studi di Genova, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Giannina Gaslini and Università degli Studi di Genova, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Ruperto, Nicolino" sort="Ruperto, Nicolino" uniqKey="Ruperto N" first="Nicolino" last="Ruperto">Nicolino Ruperto</name><affiliation wicri:level="1"><nlm:affiliation>Istituto Giannina Gaslini, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Giannina Gaslini, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Frenkel, Joost" sort="Frenkel, Joost" uniqKey="Frenkel J" first="Joost" last="Frenkel">Joost Frenkel</name><affiliation wicri:level="3"><nlm:affiliation>University Medical Center Utrecht, Utrecht, The Netherlands. j.frenkel@umcutrecht.nl.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>University Medical Center Utrecht, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Gattorno, Marco" sort="Gattorno, Marco" uniqKey="Gattorno M" first="Marco" last="Gattorno">Marco Gattorno</name><affiliation wicri:level="1"><nlm:affiliation>Istituto Giannina Gaslini, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Giannina Gaslini, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:27213830</idno><idno type="pmid">27213830</idno><idno type="doi">10.1002/art.39763</idno><idno type="wicri:Area/PubMed/Corpus">001669</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001669</idno><idno type="wicri:Area/PubMed/Curation">001647</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001647</idno><idno type="wicri:Area/PubMed/Checkpoint">001647</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001647</idno><idno type="wicri:Area/Ncbi/Merge">003585</idno><idno type="wicri:Area/Ncbi/Curation">003585</idno><idno type="wicri:Area/Ncbi/Checkpoint">003585</idno><idno type="wicri:Area/Main/Merge">001604</idno><idno type="wicri:Area/Main/Curation">001609</idno><idno type="wicri:Area/Main/Exploration">001609</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.</title><author><name sortKey="Ter Haar, Nienke M" sort="Ter Haar, Nienke M" uniqKey="Ter Haar N" first="Nienke M" last="Ter Haar">Nienke M. Ter Haar</name><affiliation wicri:level="3"><nlm:affiliation>University Medical Center Utrecht, Utrecht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>University Medical Center Utrecht, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Jeyaratnam, Jerold" sort="Jeyaratnam, Jerold" uniqKey="Jeyaratnam J" first="Jerold" last="Jeyaratnam">Jerold Jeyaratnam</name><affiliation wicri:level="3"><nlm:affiliation>University Medical Center Utrecht, Utrecht, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>University Medical Center Utrecht, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Lachmann, Helen J" sort="Lachmann, Helen J" uniqKey="Lachmann H" first="Helen J" last="Lachmann">Helen J. Lachmann</name><affiliation wicri:level="3"><nlm:affiliation>University College London Medical School, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University College London Medical School, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Simon, Anna" sort="Simon, Anna" uniqKey="Simon A" first="Anna" last="Simon">Anna Simon</name><affiliation wicri:level="3"><nlm:affiliation>Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Brogan, Paul A" sort="Brogan, Paul A" uniqKey="Brogan P" first="Paul A" last="Brogan">Paul A. Brogan</name><affiliation wicri:level="3"><nlm:affiliation>University College London and Great Ormond Street Hospital NHS Foundation Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University College London and Great Ormond Street Hospital NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Doglio, Matteo" sort="Doglio, Matteo" uniqKey="Doglio M" first="Matteo" last="Doglio">Matteo Doglio</name><affiliation wicri:level="1"><nlm:affiliation>Istituto Giannina Gaslini, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Giannina Gaslini, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Cattalini, Marco" sort="Cattalini, Marco" uniqKey="Cattalini M" first="Marco" last="Cattalini">Marco Cattalini</name><affiliation wicri:level="1"><nlm:affiliation>University of Brescia and Spedali Civili di Brescia, Brescia, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>University of Brescia and Spedali Civili di Brescia, Brescia</wicri:regionArea><wicri:noRegion>Brescia</wicri:noRegion></affiliation></author><author><name sortKey="Anton, Jordi" sort="Anton, Jordi" uniqKey="Anton J" first="Jordi" last="Anton">Jordi Anton</name><affiliation wicri:level="3"><nlm:affiliation>Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Hospital Sant Joan de Déu, University of Barcelona, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Modesto, Consuelo" sort="Modesto, Consuelo" uniqKey="Modesto C" first="Consuelo" last="Modesto">Consuelo Modesto</name><affiliation wicri:level="3"><nlm:affiliation>Hospital Valle de Hebron, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Hospital Valle de Hebron, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Quartier, Pierre" sort="Quartier, Pierre" uniqKey="Quartier P" first="Pierre" last="Quartier">Pierre Quartier</name><affiliation wicri:level="4"><nlm:affiliation>Université Paris-Descartes, Hôpital Necker-Enfants Malades, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Université Paris-Descartes, Hôpital Necker-Enfants Malades, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Hoppenreijs, Esther" sort="Hoppenreijs, Esther" uniqKey="Hoppenreijs E" first="Esther" last="Hoppenreijs">Esther Hoppenreijs</name><affiliation wicri:level="3"><nlm:affiliation>Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Radboud University Medical Center, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Martino, Silvana" sort="Martino, Silvana" uniqKey="Martino S" first="Silvana" last="Martino">Silvana Martino</name><affiliation wicri:level="3"><nlm:affiliation>Clinica Pediatrica Università di Torino, Day-Hospital Immuno-reumatologia, Turin, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Clinica Pediatrica Università di Torino, Day-Hospital Immuno-reumatologia, Turin</wicri:regionArea><placeName><settlement type="city">Turin</settlement><region type="région" nuts="2">Piémont</region></placeName></affiliation></author><author><name sortKey="Insalaco, Antonella" sort="Insalaco, Antonella" uniqKey="Insalaco A" first="Antonella" last="Insalaco">Antonella Insalaco</name><affiliation wicri:level="3"><nlm:affiliation>Ospedale Pediatrico Bambino Gesù, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Ospedale Pediatrico Bambino Gesù, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Cantarini, Luca" sort="Cantarini, Luca" uniqKey="Cantarini L" first="Luca" last="Cantarini">Luca Cantarini</name><affiliation wicri:level="1"><nlm:affiliation>University of Siena, Siena, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>University of Siena, Siena</wicri:regionArea><wicri:noRegion>Siena</wicri:noRegion></affiliation></author><author><name sortKey="Lepore, Loredana" sort="Lepore, Loredana" uniqKey="Lepore L" first="Loredana" last="Lepore">Loredana Lepore</name><affiliation wicri:level="1"><nlm:affiliation>Università degli Studi di Trieste, Trieste, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Università degli Studi di Trieste, Trieste</wicri:regionArea><wicri:noRegion>Trieste</wicri:noRegion></affiliation></author><author><name sortKey="Alessio, Maria" sort="Alessio, Maria" uniqKey="Alessio M" first="Maria" last="Alessio">Maria Alessio</name><affiliation wicri:level="1"><nlm:affiliation>Università di Napoli Federico II, Naples, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Università di Napoli Federico II, Naples</wicri:regionArea><wicri:noRegion>Naples</wicri:noRegion></affiliation></author><author><name sortKey="Calvo Penades, Inmaculada" sort="Calvo Penades, Inmaculada" uniqKey="Calvo Penades I" first="Inmaculada" last="Calvo Penades">Inmaculada Calvo Penades</name><affiliation wicri:level="1"><nlm:affiliation>University Hospital La Fe, Valencia, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>University Hospital La Fe, Valencia</wicri:regionArea><wicri:noRegion>Valencia</wicri:noRegion></affiliation></author><author><name sortKey="Boros, Christina" sort="Boros, Christina" uniqKey="Boros C" first="Christina" last="Boros">Christina Boros</name><affiliation wicri:level="1"><nlm:affiliation>Women's and Children's Hospital, University of Adelaide, North Adelaide, South Australia, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Women's and Children's Hospital, University of Adelaide, North Adelaide, South Australia</wicri:regionArea><wicri:noRegion>South Australia</wicri:noRegion></affiliation></author><author><name sortKey="Consolini, Rita" sort="Consolini, Rita" uniqKey="Consolini R" first="Rita" last="Consolini">Rita Consolini</name><affiliation wicri:level="4"><nlm:affiliation>Ospedale Santa Chiara, Università di Pisa, Pisa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Ospedale Santa Chiara, Università di Pisa, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region><settlement type="city">Pise</settlement></placeName><orgName type="university">Université de Pise</orgName></affiliation></author><author><name sortKey="Rigante, Donato" sort="Rigante, Donato" uniqKey="Rigante D" first="Donato" last="Rigante">Donato Rigante</name><affiliation wicri:level="3"><nlm:affiliation>Università Cattolica Sacro Cuore, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Università Cattolica Sacro Cuore, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Russo, Ricardo" sort="Russo, Ricardo" uniqKey="Russo R" first="Ricardo" last="Russo">Ricardo Russo</name><affiliation wicri:level="1"><nlm:affiliation>Hospital de Pediatria Juan P. Garrahan, Buenos Aires, Argentina.</nlm:affiliation><country xml:lang="fr">Argentine</country><wicri:regionArea>Hospital de Pediatria Juan P. Garrahan, Buenos Aires</wicri:regionArea><wicri:noRegion>Buenos Aires</wicri:noRegion></affiliation></author><author><name sortKey="Pachlopnik Schmid, Jana" sort="Pachlopnik Schmid, Jana" uniqKey="Pachlopnik Schmid J" first="Jana" last="Pachlopnik Schmid">Jana Pachlopnik Schmid</name><affiliation wicri:level="1"><nlm:affiliation>University Childrens Hospital Zurich, Zurich, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>University Childrens Hospital Zurich, Zurich</wicri:regionArea><wicri:noRegion>Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Lane, Thirusha" sort="Lane, Thirusha" uniqKey="Lane T" first="Thirusha" last="Lane">Thirusha Lane</name><affiliation wicri:level="3"><nlm:affiliation>University College London Medical School, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>University College London Medical School, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Martini, Alberto" sort="Martini, Alberto" uniqKey="Martini A" first="Alberto" last="Martini">Alberto Martini</name><affiliation wicri:level="1"><nlm:affiliation>Istituto Giannina Gaslini and Università degli Studi di Genova, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Giannina Gaslini and Università degli Studi di Genova, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Ruperto, Nicolino" sort="Ruperto, Nicolino" uniqKey="Ruperto N" first="Nicolino" last="Ruperto">Nicolino Ruperto</name><affiliation wicri:level="1"><nlm:affiliation>Istituto Giannina Gaslini, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Giannina Gaslini, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Frenkel, Joost" sort="Frenkel, Joost" uniqKey="Frenkel J" first="Joost" last="Frenkel">Joost Frenkel</name><affiliation wicri:level="3"><nlm:affiliation>University Medical Center Utrecht, Utrecht, The Netherlands. j.frenkel@umcutrecht.nl.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>University Medical Center Utrecht, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Gattorno, Marco" sort="Gattorno, Marco" uniqKey="Gattorno M" first="Marco" last="Gattorno">Marco Gattorno</name><affiliation wicri:level="1"><nlm:affiliation>Istituto Giannina Gaslini, Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto Giannina Gaslini, Genoa</wicri:regionArea><wicri:noRegion>Genoa</wicri:noRegion></affiliation></author></analytic><series><title level="j">Arthritis & rheumatology (Hoboken, N.J.)</title><idno type="eISSN">2326-5205</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abdominal Pain (etiology)</term><term>Abdominal Pain (genetics)</term><term>Abdominal Pain (physiopathology)</term><term>Adolescent</term><term>Age of Onset</term><term>Amyloidosis (etiology)</term><term>Amyloidosis (genetics)</term><term>Amyloidosis (physiopathology)</term><term>Arthralgia (etiology)</term><term>Arthralgia (genetics)</term><term>Arthralgia (physiopathology)</term><term>Arthritis (etiology)</term><term>Arthritis (genetics)</term><term>Arthritis (physiopathology)</term><term>Cerebellar Diseases (etiology)</term><term>Cerebellar Diseases (genetics)</term><term>Cerebellar Diseases (physiopathology)</term><term>Child</term><term>Child, Preschool</term><term>Conjunctivitis (etiology)</term><term>Conjunctivitis (genetics)</term><term>Conjunctivitis (physiopathology)</term><term>Diarrhea (etiology)</term><term>Diarrhea (genetics)</term><term>Diarrhea (physiopathology)</term><term>Female</term><term>Genotype</term><term>Headache (etiology)</term><term>Headache (genetics)</term><term>Headache (physiopathology)</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Intellectual Disability (etiology)</term><term>Intellectual Disability (genetics)</term><term>Intellectual Disability (physiopathology)</term><term>Lymphadenopathy (etiology)</term><term>Lymphadenopathy (genetics)</term><term>Lymphadenopathy (physiopathology)</term><term>Male</term><term>Mevalonate Kinase Deficiency (complications)</term><term>Mevalonate Kinase Deficiency (genetics)</term><term>Mevalonate Kinase Deficiency (physiopathology)</term><term>Myalgia (etiology)</term><term>Myalgia (genetics)</term><term>Myalgia (physiopathology)</term><term>Pharyngitis (etiology)</term><term>Pharyngitis (genetics)</term><term>Pharyngitis (physiopathology)</term><term>Phenotype</term><term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term><term>Registries</term><term>Retrospective Studies</term><term>Skin Diseases (etiology)</term><term>Skin Diseases (genetics)</term><term>Skin Diseases (physiopathology)</term><term>Stomatitis, Aphthous (etiology)</term><term>Stomatitis, Aphthous (genetics)</term><term>Stomatitis, Aphthous (physiopathology)</term><term>Uveitis (etiology)</term><term>Uveitis (genetics)</term><term>Uveitis (physiopathology)</term><term>Vomiting (etiology)</term><term>Vomiting (genetics)</term><term>Vomiting (physiopathology)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Amyloïdose (génétique)</term><term>Amyloïdose (physiopathologie)</term><term>Amyloïdose (étiologie)</term><term>Arthralgie (génétique)</term><term>Arthralgie (physiopathologie)</term><term>Arthralgie (étiologie)</term><term>Arthrite (génétique)</term><term>Arthrite (physiopathologie)</term><term>Arthrite (étiologie)</term><term>Conjonctivite (génétique)</term><term>Conjonctivite (physiopathologie)</term><term>Conjonctivite (étiologie)</term><term>Céphalée (génétique)</term><term>Céphalée (physiopathologie)</term><term>Céphalée (étiologie)</term><term>Diarrhée (génétique)</term><term>Diarrhée (physiopathologie)</term><term>Diarrhée (étiologie)</term><term>Douleur abdominale (génétique)</term><term>Douleur abdominale (physiopathologie)</term><term>Douleur abdominale (étiologie)</term><term>Déficience intellectuelle (génétique)</term><term>Déficience intellectuelle (physiopathologie)</term><term>Déficience intellectuelle (étiologie)</term><term>Déficit en mévalonate kinase ()</term><term>Déficit en mévalonate kinase (génétique)</term><term>Déficit en mévalonate kinase (physiopathologie)</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Enregistrements</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Lymphadénopathie (génétique)</term><term>Lymphadénopathie (physiopathologie)</term><term>Lymphadénopathie (étiologie)</term><term>Maladies de la peau (génétique)</term><term>Maladies de la peau (physiopathologie)</term><term>Maladies de la peau (étiologie)</term><term>Maladies du cervelet (génétique)</term><term>Maladies du cervelet (physiopathologie)</term><term>Maladies du cervelet (étiologie)</term><term>Myalgie (génétique)</term><term>Myalgie (physiopathologie)</term><term>Myalgie (étiologie)</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Pharyngite (génétique)</term><term>Pharyngite (physiopathologie)</term><term>Pharyngite (étiologie)</term><term>Phosphotransferases (Alcohol Group Acceptor) (génétique)</term><term>Phénotype</term><term>Stomatite aphteuse (génétique)</term><term>Stomatite aphteuse (physiopathologie)</term><term>Stomatite aphteuse (étiologie)</term><term>Uvéite (génétique)</term><term>Uvéite (physiopathologie)</term><term>Uvéite (étiologie)</term><term>Vomissement (génétique)</term><term>Vomissement (physiopathologie)</term><term>Vomissement (étiologie)</term><term>Âge de début</term><term>Études rétrospectives</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Phosphotransferases (Alcohol Group Acceptor)</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Mevalonate Kinase Deficiency</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Abdominal Pain</term><term>Amyloidosis</term><term>Arthralgia</term><term>Arthritis</term><term>Cerebellar Diseases</term><term>Conjunctivitis</term><term>Diarrhea</term><term>Headache</term><term>Intellectual Disability</term><term>Lymphadenopathy</term><term>Myalgia</term><term>Pharyngitis</term><term>Skin Diseases</term><term>Stomatitis, Aphthous</term><term>Uveitis</term><term>Vomiting</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abdominal Pain</term><term>Amyloidosis</term><term>Arthralgia</term><term>Arthritis</term><term>Cerebellar Diseases</term><term>Conjunctivitis</term><term>Diarrhea</term><term>Headache</term><term>Intellectual Disability</term><term>Lymphadenopathy</term><term>Mevalonate Kinase Deficiency</term><term>Myalgia</term><term>Pharyngitis</term><term>Skin Diseases</term><term>Stomatitis, Aphthous</term><term>Uveitis</term><term>Vomiting</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Amyloïdose</term><term>Arthralgie</term><term>Arthrite</term><term>Conjonctivite</term><term>Céphalée</term><term>Diarrhée</term><term>Douleur abdominale</term><term>Déficience intellectuelle</term><term>Déficit en mévalonate kinase</term><term>Lymphadénopathie</term><term>Maladies de la peau</term><term>Maladies du cervelet</term><term>Myalgie</term><term>Pharyngite</term><term>Phosphotransferases (Alcohol Group Acceptor)</term><term>Stomatite aphteuse</term><term>Uvéite</term><term>Vomissement</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Amyloïdose</term><term>Arthralgie</term><term>Arthrite</term><term>Conjonctivite</term><term>Céphalée</term><term>Diarrhée</term><term>Douleur abdominale</term><term>Déficience intellectuelle</term><term>Déficit en mévalonate kinase</term><term>Lymphadénopathie</term><term>Maladies de la peau</term><term>Maladies du cervelet</term><term>Myalgie</term><term>Pharyngite</term><term>Stomatite aphteuse</term><term>Uvéite</term><term>Vomissement</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Abdominal Pain</term><term>Amyloidosis</term><term>Arthralgia</term><term>Arthritis</term><term>Cerebellar Diseases</term><term>Conjunctivitis</term><term>Diarrhea</term><term>Headache</term><term>Intellectual Disability</term><term>Lymphadenopathy</term><term>Mevalonate Kinase Deficiency</term><term>Myalgia</term><term>Pharyngitis</term><term>Skin Diseases</term><term>Stomatitis, Aphthous</term><term>Uveitis</term><term>Vomiting</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Amyloïdose</term><term>Arthralgie</term><term>Arthrite</term><term>Conjonctivite</term><term>Céphalée</term><term>Diarrhée</term><term>Douleur abdominale</term><term>Déficience intellectuelle</term><term>Lymphadénopathie</term><term>Maladies de la peau</term><term>Maladies du cervelet</term><term>Myalgie</term><term>Pharyngite</term><term>Stomatite aphteuse</term><term>Uvéite</term><term>Vomissement</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Age of Onset</term><term>Child</term><term>Child, Preschool</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Phenotype</term><term>Registries</term><term>Retrospective Studies</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Déficit en mévalonate kinase</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Enregistrements</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Phénotype</term><term>Âge de début</term><term>Études rétrospectives</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mevalonate kinase deficiency (MKD) is a rare metabolic disease characterized by recurrent inflammatory episodes. This study was undertaken to describe the genotype, phenotype, and response to treatment in an international cohort of MKD patients.</div></front></TEI><affiliations><list><country><li>Argentine</li><li>Australie</li><li>Espagne</li><li>France</li><li>Italie</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suisse</li></country><region><li>Angleterre</li><li>Catalogne</li><li>Grand Londres</li><li>Gueldre</li><li>Latium</li><li>Piémont</li><li>Toscane</li><li>Utrecht (province)</li><li>Île-de-France</li></region><settlement><li>Barcelone</li><li>Londres</li><li>Nimègue</li><li>Paris</li><li>Pise</li><li>Rome</li><li>Turin</li><li>Utrecht</li></settlement><orgName><li>Université Paris-Descartes</li><li>Université de Pise</li></orgName></list><tree><country name="Pays-Bas"><region name="Utrecht (province)"><name sortKey="Ter Haar, Nienke M" sort="Ter Haar, Nienke M" uniqKey="Ter Haar N" first="Nienke M" last="Ter Haar">Nienke M. Ter Haar</name></region><name sortKey="Frenkel, Joost" sort="Frenkel, Joost" uniqKey="Frenkel J" first="Joost" last="Frenkel">Joost Frenkel</name><name sortKey="Hoppenreijs, Esther" sort="Hoppenreijs, Esther" uniqKey="Hoppenreijs E" first="Esther" last="Hoppenreijs">Esther Hoppenreijs</name><name sortKey="Jeyaratnam, Jerold" sort="Jeyaratnam, Jerold" uniqKey="Jeyaratnam J" first="Jerold" last="Jeyaratnam">Jerold Jeyaratnam</name><name sortKey="Simon, Anna" sort="Simon, Anna" uniqKey="Simon A" first="Anna" last="Simon">Anna Simon</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Lachmann, Helen J" sort="Lachmann, Helen J" uniqKey="Lachmann H" first="Helen J" last="Lachmann">Helen J. Lachmann</name></region><name sortKey="Brogan, Paul A" sort="Brogan, Paul A" uniqKey="Brogan P" first="Paul A" last="Brogan">Paul A. Brogan</name><name sortKey="Lane, Thirusha" sort="Lane, Thirusha" uniqKey="Lane T" first="Thirusha" last="Lane">Thirusha Lane</name></country><country name="Italie"><noRegion><name sortKey="Doglio, Matteo" sort="Doglio, Matteo" uniqKey="Doglio M" first="Matteo" last="Doglio">Matteo Doglio</name></noRegion><name sortKey="Alessio, Maria" sort="Alessio, Maria" uniqKey="Alessio M" first="Maria" last="Alessio">Maria Alessio</name><name sortKey="Cantarini, Luca" sort="Cantarini, Luca" uniqKey="Cantarini L" first="Luca" last="Cantarini">Luca Cantarini</name><name sortKey="Cattalini, Marco" sort="Cattalini, Marco" uniqKey="Cattalini M" first="Marco" last="Cattalini">Marco Cattalini</name><name sortKey="Consolini, Rita" sort="Consolini, Rita" uniqKey="Consolini R" first="Rita" last="Consolini">Rita Consolini</name><name sortKey="Gattorno, Marco" sort="Gattorno, Marco" uniqKey="Gattorno M" first="Marco" last="Gattorno">Marco Gattorno</name><name sortKey="Insalaco, Antonella" sort="Insalaco, Antonella" uniqKey="Insalaco A" first="Antonella" last="Insalaco">Antonella Insalaco</name><name sortKey="Lepore, Loredana" sort="Lepore, Loredana" uniqKey="Lepore L" first="Loredana" last="Lepore">Loredana Lepore</name><name sortKey="Martini, Alberto" sort="Martini, Alberto" uniqKey="Martini A" first="Alberto" last="Martini">Alberto Martini</name><name sortKey="Martino, Silvana" sort="Martino, Silvana" uniqKey="Martino S" first="Silvana" last="Martino">Silvana Martino</name><name sortKey="Rigante, Donato" sort="Rigante, Donato" uniqKey="Rigante D" first="Donato" last="Rigante">Donato Rigante</name><name sortKey="Ruperto, Nicolino" sort="Ruperto, Nicolino" uniqKey="Ruperto N" first="Nicolino" last="Ruperto">Nicolino Ruperto</name></country><country name="Espagne"><region name="Catalogne"><name sortKey="Anton, Jordi" sort="Anton, Jordi" uniqKey="Anton J" first="Jordi" last="Anton">Jordi Anton</name></region><name sortKey="Calvo Penades, Inmaculada" sort="Calvo Penades, Inmaculada" uniqKey="Calvo Penades I" first="Inmaculada" last="Calvo Penades">Inmaculada Calvo Penades</name><name sortKey="Modesto, Consuelo" sort="Modesto, Consuelo" uniqKey="Modesto C" first="Consuelo" last="Modesto">Consuelo Modesto</name></country><country name="France"><region name="Île-de-France"><name sortKey="Quartier, Pierre" sort="Quartier, Pierre" uniqKey="Quartier P" first="Pierre" last="Quartier">Pierre Quartier</name></region></country><country name="Australie"><noRegion><name sortKey="Boros, Christina" sort="Boros, Christina" uniqKey="Boros C" first="Christina" last="Boros">Christina Boros</name></noRegion></country><country name="Argentine"><noRegion><name sortKey="Russo, Ricardo" sort="Russo, Ricardo" uniqKey="Russo R" first="Ricardo" last="Russo">Ricardo Russo</name></noRegion></country><country name="Suisse"><noRegion><name sortKey="Pachlopnik Schmid, Jana" sort="Pachlopnik Schmid, Jana" uniqKey="Pachlopnik Schmid J" first="Jana" last="Pachlopnik Schmid">Jana Pachlopnik Schmid</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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