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Characteristics of disorders associated with genetic mutations of surfactant protein C.

Identifieur interne : 000131 ( Ncbi/Checkpoint ); précédent : 000130; suivant : 000132

Characteristics of disorders associated with genetic mutations of surfactant protein C.

Auteurs : Guillaume Thouvenin [France] ; Rola Abou Taam ; Florence Flamein ; Loïc Guillot ; Muriel Le Bourgeois ; Philippe Reix ; Mickael Fayon ; François Counil ; Ulrika Depontbriand ; Delphine Feldmann ; Hubert Ducou-Le Pointe ; Jacques De Blic ; Annick Clement ; Ralph Epaud

Source :

RBID : pubmed:20403820

Descripteurs français

English descriptors

Abstract

To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation.

DOI: 10.1136/adc.2009.171553
PubMed: 20403820


Affiliations:


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pubmed:20403820

Le document en format XML

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<nlm:affiliation>INSERM UMR_S U938, Paris, France.</nlm:affiliation>
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<title level="j">Archives of disease in childhood</title>
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<term>Age of Onset</term>
<term>Bronchoalveolar Lavage Fluid (chemistry)</term>
<term>Bronchoscopy</term>
<term>Female</term>
<term>Glucocorticoids (therapeutic use)</term>
<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Lung Diseases, Interstitial (diagnostic imaging)</term>
<term>Lung Diseases, Interstitial (genetics)</term>
<term>Lung Diseases, Interstitial (metabolism)</term>
<term>Lung Diseases, Interstitial (therapy)</term>
<term>Male</term>
<term>Mutation</term>
<term>Oxygen Inhalation Therapy</term>
<term>Pulmonary Surfactant-Associated Protein C (analysis)</term>
<term>Pulmonary Surfactant-Associated Protein C (genetics)</term>
<term>Tomography, X-Ray Computed</term>
<term>Treatment Outcome</term>
</keywords>
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<term>Bronchoscopie</term>
<term>Femelle</term>
<term>Glucocorticoïdes (usage thérapeutique)</term>
<term>Humains</term>
<term>Liquide de lavage bronchoalvéolaire ()</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Oxygénothérapie</term>
<term>Pneumopathies interstitielles ()</term>
<term>Pneumopathies interstitielles (génétique)</term>
<term>Pneumopathies interstitielles (imagerie diagnostique)</term>
<term>Pneumopathies interstitielles (métabolisme)</term>
<term>Protéine C associée au surfactant pulmonaire (analyse)</term>
<term>Protéine C associée au surfactant pulmonaire (génétique)</term>
<term>Résultat thérapeutique</term>
<term>Tomodensitométrie</term>
<term>Âge de début</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en">
<term>Pulmonary Surfactant-Associated Protein C</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en">
<term>Pulmonary Surfactant-Associated Protein C</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en">
<term>Glucocorticoids</term>
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<keywords scheme="MESH" qualifier="analyse" xml:lang="fr">
<term>Protéine C associée au surfactant pulmonaire</term>
</keywords>
<keywords scheme="MESH" qualifier="chemistry" xml:lang="en">
<term>Bronchoalveolar Lavage Fluid</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en">
<term>Lung Diseases, Interstitial</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en">
<term>Lung Diseases, Interstitial</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr">
<term>Pneumopathies interstitielles</term>
<term>Protéine C associée au surfactant pulmonaire</term>
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<term>Pneumopathies interstitielles</term>
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<term>Lung Diseases, Interstitial</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr">
<term>Pneumopathies interstitielles</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en">
<term>Lung Diseases, Interstitial</term>
</keywords>
<keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr">
<term>Glucocorticoïdes</term>
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<term>Bronchoscopy</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Male</term>
<term>Mutation</term>
<term>Oxygen Inhalation Therapy</term>
<term>Tomography, X-Ray Computed</term>
<term>Treatment Outcome</term>
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<term>Femelle</term>
<term>Humains</term>
<term>Liquide de lavage bronchoalvéolaire</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Nourrisson</term>
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<term>Oxygénothérapie</term>
<term>Pneumopathies interstitielles</term>
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<div type="abstract" xml:lang="en">To present diagnosis and treatment modalities of children with interstitial lung disease associated with frequent or rare surfactant protein C gene (SFTPC) mutation.</div>
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<name sortKey="Guillot, Loic" sort="Guillot, Loic" uniqKey="Guillot L" first="Loïc" last="Guillot">Loïc Guillot</name>
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<name sortKey="Pointe, Hubert Ducou Le" sort="Pointe, Hubert Ducou Le" uniqKey="Pointe H" first="Hubert Ducou-Le" last="Pointe">Hubert Ducou-Le Pointe</name>
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<name sortKey="Thouvenin, Guillaume" sort="Thouvenin, Guillaume" uniqKey="Thouvenin G" first="Guillaume" last="Thouvenin">Guillaume Thouvenin</name>
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