[Aagenaes syndrome--lymphedema and intrahepatic cholestasis].
Identifieur interne : 009941 ( Main/Exploration ); précédent : 009940; suivant : 009942[Aagenaes syndrome--lymphedema and intrahepatic cholestasis].
Auteurs : A. HeibergSource :
- Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke [ 0029-2001 ] ; 2001.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Cholestase intrahépatique, Lymphoedème.
- histoire : Cholestase intrahépatique, Lymphoedème.
- Histoire du 20ème siècle, Humains, Mâle, Norvège, Nouveau-né, Syndrome.
- Wicri :
- geographic : Norvège.
English descriptors
- KwdEn :
- MESH :
- geographic : Norway.
- genetics : Cholestasis, Intrahepatic, Lymphedema.
- history : Cholestasis, Intrahepatic, Lymphedema.
- History, 20th Century, Humans, Infant, Newborn, Male, Syndrome.
Abstract
The combination of neonatal intrahepatic cholestasis and lymphoedema in feet and legs is a specific syndrome named after the Norwegian paediatrician Øystein Aagenaes, who described the syndrome in 1968. The condition is autosomal recessively inherited and the gene is located to 15q, but not yet identified. The condition is particularly frequent in the southern most part of Norway and the gene frequency is estimated to be about 3%. The development of small lymphoid vessels is probably deficient around the small biliary tracts and in general. Aagenaes' syndrome is found in patients from other parts of Europe and the US, but more than half of the cases are of Norwegian origin.
PubMed: 11446017
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 004789
- to stream PubMed, to step Curation: 004789
- to stream PubMed, to step Checkpoint: 004789
- to stream Ncbi, to step Merge: 000695
- to stream Ncbi, to step Curation: 000695
- to stream Ncbi, to step Checkpoint: 000695
- to stream Main, to step Merge: 009D36
- to stream Main, to step Curation: 009941
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">[Aagenaes syndrome--lymphedema and intrahepatic cholestasis].</title>
<author><name sortKey="Heiberg, A" sort="Heiberg, A" uniqKey="Heiberg A" first="A" last="Heiberg">A. Heiberg</name>
<affiliation><nlm:affiliation>Avdeling for medisinsk genetikk Rikshospitalet 0027 Oslo.</nlm:affiliation>
<wicri:noCountry code="no comma">Avdeling for medisinsk genetikk Rikshospitalet 0027 Oslo.</wicri:noCountry>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2001">2001</date>
<idno type="RBID">pubmed:11446017</idno>
<idno type="pmid">11446017</idno>
<idno type="wicri:Area/PubMed/Corpus">004789</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004789</idno>
<idno type="wicri:Area/PubMed/Curation">004789</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004789</idno>
<idno type="wicri:Area/PubMed/Checkpoint">004789</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004789</idno>
<idno type="wicri:Area/Ncbi/Merge">000695</idno>
<idno type="wicri:Area/Ncbi/Curation">000695</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000695</idno>
<idno type="wicri:doubleKey">0029-2001:2001:Heiberg A:aagenaes:syndrome:lymphedema</idno>
<idno type="wicri:Area/Main/Merge">009D36</idno>
<idno type="wicri:Area/Main/Curation">009941</idno>
<idno type="wicri:Area/Main/Exploration">009941</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">[Aagenaes syndrome--lymphedema and intrahepatic cholestasis].</title>
<author><name sortKey="Heiberg, A" sort="Heiberg, A" uniqKey="Heiberg A" first="A" last="Heiberg">A. Heiberg</name>
<affiliation><nlm:affiliation>Avdeling for medisinsk genetikk Rikshospitalet 0027 Oslo.</nlm:affiliation>
<wicri:noCountry code="no comma">Avdeling for medisinsk genetikk Rikshospitalet 0027 Oslo.</wicri:noCountry>
</affiliation>
</author>
</analytic>
<series><title level="j">Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke</title>
<idno type="ISSN">0029-2001</idno>
<imprint><date when="2001" type="published">2001</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cholestasis, Intrahepatic (genetics)</term>
<term>Cholestasis, Intrahepatic (history)</term>
<term>History, 20th Century</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (history)</term>
<term>Male</term>
<term>Norway</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Cholestase intrahépatique (génétique)</term>
<term>Cholestase intrahépatique (histoire)</term>
<term>Histoire du 20ème siècle</term>
<term>Humains</term>
<term>Lymphoedème (génétique)</term>
<term>Lymphoedème (histoire)</term>
<term>Mâle</term>
<term>Norvège</term>
<term>Nouveau-né</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Norway</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cholestasis, Intrahepatic</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Cholestase intrahépatique</term>
<term>Lymphoedème</term>
</keywords>
<keywords scheme="MESH" qualifier="histoire" xml:lang="fr"><term>Cholestase intrahépatique</term>
<term>Lymphoedème</term>
</keywords>
<keywords scheme="MESH" qualifier="history" xml:lang="en"><term>Cholestasis, Intrahepatic</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>History, 20th Century</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Male</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Histoire du 20ème siècle</term>
<term>Humains</term>
<term>Mâle</term>
<term>Norvège</term>
<term>Nouveau-né</term>
<term>Syndrome</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Norvège</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">The combination of neonatal intrahepatic cholestasis and lymphoedema in feet and legs is a specific syndrome named after the Norwegian paediatrician Øystein Aagenaes, who described the syndrome in 1968. The condition is autosomal recessively inherited and the gene is located to 15q, but not yet identified. The condition is particularly frequent in the southern most part of Norway and the gene frequency is estimated to be about 3%. The development of small lymphoid vessels is probably deficient around the small biliary tracts and in general. Aagenaes' syndrome is found in patients from other parts of Europe and the US, but more than half of the cases are of Norwegian origin.</div>
</front>
</TEI>
<affiliations><list></list>
<tree><noCountry><name sortKey="Heiberg, A" sort="Heiberg, A" uniqKey="Heiberg A" first="A" last="Heiberg">A. Heiberg</name>
</noCountry>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 009941 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 009941 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Main |étape= Exploration |type= RBID |clé= pubmed:11446017 |texte= [Aagenaes syndrome--lymphedema and intrahepatic cholestasis]. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:11446017" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
This area was generated with Dilib version V0.6.31. |