Fabry disease and the skin: data from FOS, the Fabry outcome survey
Identifieur interne : 002414 ( Istex/Curation ); précédent : 002413; suivant : 002415Fabry disease and the skin: data from FOS, the Fabry outcome survey
Auteurs : C. H. Orteu ; T. Jansen [Allemagne] ; O. Lidove [France] ; R. Jaussaud [France] ; D. A. Hughes [France] ; G. Pintos-Morell [Royaume-Uni] ; U. Ramaswami [Espagne] ; R. Parini [Royaume-Uni] ; G. Sunder-Plassman [Italie] ; M. Beck [Autriche] ; A. B. Mehta [France]Source :
- British Journal of Dermatology [ 0007-0963 ] ; 2007-08.
Abstract
Background 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.
Url:
DOI: 10.1111/j.1365-2133.2007.08002.x
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002414
Links to Exploration step
ISTEX:4EB0B515BE46DD0F00AD4F1CCCC9F33665FA414ACuration
No country items
C. H. Orteu<affiliation><mods:affiliation>Departments of Dermatology and</mods:affiliation>
<wicri:noCountry code="no comma">Departments of Dermatology and</wicri:noCountry>
</affiliation>
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Fabry disease and the skin: data from FOS, the Fabry outcome survey</title>
<author><name sortKey="Orteu, C H" sort="Orteu, C H" uniqKey="Orteu C" first="C. H." last="Orteu">C. H. Orteu</name>
<affiliation><mods:affiliation>Departments of Dermatology and</mods:affiliation>
<wicri:noCountry code="no comma">Departments of Dermatology and</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Jansen, T" sort="Jansen, T" uniqKey="Jansen T" first="T." last="Jansen">T. Jansen</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Ruhr University, Bochum, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Dermatology, Ruhr University, Bochum</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lidove, O" sort="Lidove, O" uniqKey="Lidove O" first="O." last="Lidove">O. Lidove</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, Bichat Hospital, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Internal Medicine, Bichat Hospital, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Jaussaud, R" sort="Jaussaud, R" uniqKey="Jaussaud R" first="R." last="Jaussaud">R. Jaussaud</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hughes, D A" sort="Hughes, D A" uniqKey="Hughes D" first="D. A." last="Hughes">D. A. Hughes</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pintos Orell, G" sort="Pintos Orell, G" uniqKey="Pintos Orell G" first="G." last="Pintos-Morell">G. Pintos-Morell</name>
<affiliation wicri:level="1"><mods:affiliation>Haematology, Royal Free Hospital, London NW3 2QG, U.K.</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Haematology, Royal Free Hospital, London NW3 2QG</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ramaswami, U" sort="Ramaswami, U" uniqKey="Ramaswami U" first="U." last="Ramaswami">U. Ramaswami</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Spain</mods:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Parini, R" sort="Parini, R" uniqKey="Parini R" first="R." last="Parini">R. Parini</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Paediatrics, Addenbrooke’s Hospital, Cambridge, U.K.</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatrics, Addenbrooke’s Hospital, Cambridge</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sunder Lassman, G" sort="Sunder Lassman, G" uniqKey="Sunder Lassman G" first="G." last="Sunder-Plassman">G. Sunder-Plassman</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Paediatrics, University of Milan, Monza, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Paediatrics, University of Milan, Monza</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M." last="Beck">M. Beck</name>
<affiliation wicri:level="1"><mods:affiliation>Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna, Austria</mods:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mehta, A B" sort="Mehta, A B" uniqKey="Mehta A" first="A. B." last="Mehta">A. B. Mehta</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims</wicri:regionArea>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:4EB0B515BE46DD0F00AD4F1CCCC9F33665FA414A</idno>
<date when="2007" year="2007">2007</date>
<idno type="doi">10.1111/j.1365-2133.2007.08002.x</idno>
<idno type="url">https://api.istex.fr/document/4EB0B515BE46DD0F00AD4F1CCCC9F33665FA414A/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002414</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002414</idno>
<idno type="wicri:Area/Istex/Curation">002414</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main">Fabry disease and the skin: data from FOS, the Fabry outcome survey</title>
<author><name sortKey="Orteu, C H" sort="Orteu, C H" uniqKey="Orteu C" first="C. H." last="Orteu">C. H. Orteu</name>
<affiliation><mods:affiliation>Departments of Dermatology and</mods:affiliation>
<wicri:noCountry code="no comma">Departments of Dermatology and</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Jansen, T" sort="Jansen, T" uniqKey="Jansen T" first="T." last="Jansen">T. Jansen</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Ruhr University, Bochum, Germany</mods:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Dermatology, Ruhr University, Bochum</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lidove, O" sort="Lidove, O" uniqKey="Lidove O" first="O." last="Lidove">O. Lidove</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, Bichat Hospital, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Internal Medicine, Bichat Hospital, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Jaussaud, R" sort="Jaussaud, R" uniqKey="Jaussaud R" first="R." last="Jaussaud">R. Jaussaud</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hughes, D A" sort="Hughes, D A" uniqKey="Hughes D" first="D. A." last="Hughes">D. A. Hughes</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pintos Orell, G" sort="Pintos Orell, G" uniqKey="Pintos Orell G" first="G." last="Pintos-Morell">G. Pintos-Morell</name>
<affiliation wicri:level="1"><mods:affiliation>Haematology, Royal Free Hospital, London NW3 2QG, U.K.</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Haematology, Royal Free Hospital, London NW3 2QG</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ramaswami, U" sort="Ramaswami, U" uniqKey="Ramaswami U" first="U." last="Ramaswami">U. Ramaswami</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona, Spain</mods:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Department of Paediatrics, University Hospital Germans Trias i Pujol, Badalona</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Parini, R" sort="Parini, R" uniqKey="Parini R" first="R." last="Parini">R. Parini</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Paediatrics, Addenbrooke’s Hospital, Cambridge, U.K.</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Paediatrics, Addenbrooke’s Hospital, Cambridge</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sunder Lassman, G" sort="Sunder Lassman, G" uniqKey="Sunder Lassman G" first="G." last="Sunder-Plassman">G. Sunder-Plassman</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Paediatrics, University of Milan, Monza, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Paediatrics, University of Milan, Monza</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M." last="Beck">M. Beck</name>
<affiliation wicri:level="1"><mods:affiliation>Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna, Austria</mods:affiliation>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Division of Nephrology and Dialysis, Department of Medicine III, Medical University Vienna, Vienna</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mehta, A B" sort="Mehta, A B" uniqKey="Mehta A" first="A. B." last="Mehta">A. B. Mehta</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Internal Medicine and Infectious Diseases, Robert Debré Hospital, Reims</wicri:regionArea>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j" type="main">British Journal of Dermatology</title>
<title level="j" type="alt">BRITISH JOURNAL OF DERMATOLOGY</title>
<idno type="ISSN">0007-0963</idno>
<idno type="eISSN">1365-2133</idno>
<imprint><biblScope unit="vol">157</biblScope>
<biblScope unit="issue">2</biblScope>
<biblScope unit="page" from="331">331</biblScope>
<biblScope unit="page" to="337">337</biblScope>
<biblScope unit="page-count">7</biblScope>
<publisher>Blackwell Publishing Ltd</publisher>
<pubPlace>Oxford, UK</pubPlace>
<date type="published" when="2007-08">2007-08</date>
</imprint>
<idno type="ISSN">0007-0963</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0007-0963</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract">Background 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>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002414 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 002414 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Istex |étape= Curation |type= RBID |clé= ISTEX:4EB0B515BE46DD0F00AD4F1CCCC9F33665FA414A |texte= Fabry disease and the skin: data from FOS, the Fabry outcome survey }}
This area was generated with Dilib version V0.6.31. |