Fabry disease and the skin: data from FOS, the Fabry outcome survey.
Identifieur interne : 002766 ( Ncbi/Checkpoint ); précédent : 002765; suivant : 002767Fabry disease and the skin: data from FOS, the Fabry outcome survey.
Auteurs : C H Orteu [Royaume-Uni] ; T. Jansen ; O. Lidove ; R. Jaussaud ; D A Hughes ; G. Pintos-Morell ; U. Ramaswami ; R. Parini ; G. Sunder-Plassman ; M. Beck ; A B MehtaSource :
- The British journal of dermatology [ 0007-0963 ] ; 2007.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Angiokératome (anatomopathologie), Angiokératome (épidémiologie), Angiokératome (étiologie), Enfant, Europe (épidémiologie), Facteurs de l'âge, Facteurs sexuels, Femelle, Humains, Hypohidrose (épidémiologie), Hypohidrose (étiologie), Indice de gravité médicale, Lymphoedème (épidémiologie), Lymphoedème (étiologie), Maladie de Fabry (), Maladie de Fabry (anatomopathologie), Maladie de Fabry (épidémiologie), Maladies de la peau (épidémiologie), Maladies de la peau (étiologie), Mâle, Prévalence, Tumeurs cutanées (anatomopathologie), Tumeurs cutanées (épidémiologie), Tumeurs cutanées (étiologie), Télangiectasie (anatomopathologie), Télangiectasie (épidémiologie), Télangiectasie (étiologie).
- MESH :
- anatomopathologie : Angiokératome, Maladie de Fabry, Tumeurs cutanées, Télangiectasie.
- épidémiologie : Angiokératome, Europe, Hypohidrose, Lymphoedème, Maladie de Fabry, Maladies de la peau, Tumeurs cutanées, Télangiectasie.
- étiologie : Angiokératome, Hypohidrose, Lymphoedème, Maladies de la peau, Tumeurs cutanées, Télangiectasie.
- Adolescent, Adulte, Adulte d'âge moyen, Enfant, Facteurs de l'âge, Facteurs sexuels, Femelle, Humains, Indice de gravité médicale, Maladie de Fabry, Mâle, Prévalence.
English descriptors
- KwdEn :
- Adolescent, Adult, Age Factors, Angiokeratoma (epidemiology), Angiokeratoma (etiology), Angiokeratoma (pathology), Child, Europe (epidemiology), Fabry Disease (complications), Fabry Disease (epidemiology), Fabry Disease (pathology), Female, Humans, Hypohidrosis (epidemiology), Hypohidrosis (etiology), Lymphedema (epidemiology), Lymphedema (etiology), Male, Middle Aged, Prevalence, Severity of Illness Index, Sex Factors, Skin Diseases (epidemiology), Skin Diseases (etiology), Skin Neoplasms (epidemiology), Skin Neoplasms (etiology), Skin Neoplasms (pathology), Telangiectasis (epidemiology), Telangiectasis (etiology), Telangiectasis (pathology).
- MESH :
- geographic , epidemiology : Europe.
- complications : Fabry Disease.
- epidemiology : Angiokeratoma, Fabry Disease, Hypohidrosis, Lymphedema, Skin Diseases, Skin Neoplasms, Telangiectasis.
- etiology : Angiokeratoma, Hypohidrosis, Lymphedema, Skin Diseases, Skin Neoplasms, Telangiectasis.
- pathology : Angiokeratoma, Fabry Disease, Skin Neoplasms, Telangiectasis.
- Adolescent, Adult, Age Factors, Child, Female, Humans, Male, Middle Aged, Prevalence, Severity of Illness Index, Sex Factors.
Abstract
Fabry disease (also known as Anderson-Fabry disease) is a rare, X-linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body.
DOI: 10.1111/j.1365-2133.2007.08002.x
PubMed: 17573884
Affiliations:
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Jansen</name></author><author><name sortKey="Lidove, O" sort="Lidove, O" uniqKey="Lidove O" first="O" last="Lidove">O. Lidove</name></author><author><name sortKey="Jaussaud, R" sort="Jaussaud, R" uniqKey="Jaussaud R" first="R" last="Jaussaud">R. Jaussaud</name></author><author><name sortKey="Hughes, D A" sort="Hughes, D A" uniqKey="Hughes D" first="D A" last="Hughes">D A Hughes</name></author><author><name sortKey="Pintos Morell, G" sort="Pintos Morell, G" uniqKey="Pintos Morell G" first="G" last="Pintos-Morell">G. Pintos-Morell</name></author><author><name sortKey="Ramaswami, U" sort="Ramaswami, U" uniqKey="Ramaswami U" first="U" last="Ramaswami">U. Ramaswami</name></author><author><name sortKey="Parini, R" sort="Parini, R" uniqKey="Parini R" first="R" last="Parini">R. Parini</name></author><author><name sortKey="Sunder Plassman, G" sort="Sunder Plassman, G" uniqKey="Sunder Plassman G" first="G" last="Sunder-Plassman">G. Sunder-Plassman</name></author><author><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M" last="Beck">M. Beck</name></author><author><name sortKey="Mehta, A B" sort="Mehta, A B" uniqKey="Mehta A" first="A B" last="Mehta">A B Mehta</name></author></analytic><series><title level="j">The British journal of dermatology</title><idno type="ISSN">0007-0963</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Factors</term><term>Angiokeratoma (epidemiology)</term><term>Angiokeratoma (etiology)</term><term>Angiokeratoma (pathology)</term><term>Child</term><term>Europe (epidemiology)</term><term>Fabry Disease (complications)</term><term>Fabry Disease (epidemiology)</term><term>Fabry Disease (pathology)</term><term>Female</term><term>Humans</term><term>Hypohidrosis (epidemiology)</term><term>Hypohidrosis (etiology)</term><term>Lymphedema (epidemiology)</term><term>Lymphedema (etiology)</term><term>Male</term><term>Middle Aged</term><term>Prevalence</term><term>Severity of Illness Index</term><term>Sex Factors</term><term>Skin Diseases (epidemiology)</term><term>Skin Diseases (etiology)</term><term>Skin Neoplasms (epidemiology)</term><term>Skin Neoplasms (etiology)</term><term>Skin Neoplasms (pathology)</term><term>Telangiectasis (epidemiology)</term><term>Telangiectasis (etiology)</term><term>Telangiectasis (pathology)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Angiokératome (anatomopathologie)</term><term>Angiokératome (épidémiologie)</term><term>Angiokératome (étiologie)</term><term>Enfant</term><term>Europe (épidémiologie)</term><term>Facteurs de l'âge</term><term>Facteurs sexuels</term><term>Femelle</term><term>Humains</term><term>Hypohidrose (épidémiologie)</term><term>Hypohidrose (étiologie)</term><term>Indice de gravité médicale</term><term>Lymphoedème (épidémiologie)</term><term>Lymphoedème (étiologie)</term><term>Maladie de Fabry ()</term><term>Maladie de Fabry (anatomopathologie)</term><term>Maladie de Fabry (épidémiologie)</term><term>Maladies de la peau (épidémiologie)</term><term>Maladies de la peau (étiologie)</term><term>Mâle</term><term>Prévalence</term><term>Tumeurs cutanées (anatomopathologie)</term><term>Tumeurs cutanées (épidémiologie)</term><term>Tumeurs cutanées (étiologie)</term><term>Télangiectasie (anatomopathologie)</term><term>Télangiectasie (épidémiologie)</term><term>Télangiectasie (étiologie)</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Europe</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Angiokératome</term><term>Maladie de Fabry</term><term>Tumeurs cutanées</term><term>Télangiectasie</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Fabry Disease</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Angiokeratoma</term><term>Fabry Disease</term><term>Hypohidrosis</term><term>Lymphedema</term><term>Skin Diseases</term><term>Skin Neoplasms</term><term>Telangiectasis</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Angiokeratoma</term><term>Hypohidrosis</term><term>Lymphedema</term><term>Skin Diseases</term><term>Skin Neoplasms</term><term>Telangiectasis</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Angiokeratoma</term><term>Fabry Disease</term><term>Skin Neoplasms</term><term>Telangiectasis</term></keywords><keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Angiokératome</term><term>Europe</term><term>Hypohidrose</term><term>Lymphoedème</term><term>Maladie de Fabry</term><term>Maladies de la peau</term><term>Tumeurs cutanées</term><term>Télangiectasie</term></keywords><keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Angiokératome</term><term>Hypohidrose</term><term>Lymphoedème</term><term>Maladies de la peau</term><term>Tumeurs cutanées</term><term>Télangiectasie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Factors</term><term>Child</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Prevalence</term><term>Severity of Illness Index</term><term>Sex Factors</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Enfant</term><term>Facteurs de l'âge</term><term>Facteurs sexuels</term><term>Femelle</term><term>Humains</term><term>Indice de gravité médicale</term><term>Maladie de Fabry</term><term>Mâle</term><term>Prévalence</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Fabry disease (also known as Anderson-Fabry disease) is a rare, X-linked lysosomal storage disorder that is characterized by accumulation of globotriaosylceramide throughout a range of tissues in the body.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country></list><tree><noCountry><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M" last="Beck">M. Beck</name><name sortKey="Hughes, D A" sort="Hughes, D A" uniqKey="Hughes D" first="D A" last="Hughes">D A Hughes</name><name sortKey="Jansen, T" sort="Jansen, T" uniqKey="Jansen T" first="T" last="Jansen">T. Jansen</name><name sortKey="Jaussaud, R" sort="Jaussaud, R" uniqKey="Jaussaud R" first="R" last="Jaussaud">R. Jaussaud</name><name sortKey="Lidove, O" sort="Lidove, O" uniqKey="Lidove O" first="O" last="Lidove">O. Lidove</name><name sortKey="Mehta, A B" sort="Mehta, A B" uniqKey="Mehta A" first="A B" last="Mehta">A B Mehta</name><name sortKey="Parini, R" sort="Parini, R" uniqKey="Parini R" first="R" last="Parini">R. Parini</name><name sortKey="Pintos Morell, G" sort="Pintos Morell, G" uniqKey="Pintos Morell G" first="G" last="Pintos-Morell">G. Pintos-Morell</name><name sortKey="Ramaswami, U" sort="Ramaswami, U" uniqKey="Ramaswami U" first="U" last="Ramaswami">U. Ramaswami</name><name sortKey="Sunder Plassman, G" sort="Sunder Plassman, G" uniqKey="Sunder Plassman G" first="G" last="Sunder-Plassman">G. Sunder-Plassman</name></noCountry><country name="Royaume-Uni"><noRegion><name sortKey="Orteu, C H" sort="Orteu, C H" uniqKey="Orteu C" first="C H" last="Orteu">C H Orteu</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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