Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
Identifieur interne : 000365 ( Ncbi/Curation ); précédent : 000364; suivant : 000366Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
Auteurs : M T Dotti [Italie] ; A. Federico ; R. Garuti ; S. CalandraSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2000.
English descriptors
- KwdEn :
- Blotting, Southern, Cholestanetriol 26-Monooxygenase, Cytochrome P-450 Enzyme System (genetics), Homozygote, Humans, Lipid Metabolism, Inborn Errors (genetics), Male, Middle Aged, Mutation, Missense, Parkinsonian Disorders (enzymology), Parkinsonian Disorders (genetics), Polymorphism, Single-Stranded Conformational, Steroid Hydroxylases (genetics), Xanthomatosis, Cerebrotendinous (complications), Xanthomatosis, Cerebrotendinous (enzymology), Xanthomatosis, Cerebrotendinous (genetics).
- MESH :
- chemical , genetics : Cytochrome P-450 Enzyme System, Steroid Hydroxylases.
- chemical : Cholestanetriol 26-Monooxygenase.
- complications : Xanthomatosis, Cerebrotendinous.
- enzymology : Parkinsonian Disorders, Xanthomatosis, Cerebrotendinous.
- genetics : Lipid Metabolism, Inborn Errors, Parkinsonian Disorders, Xanthomatosis, Cerebrotendinous.
- Blotting, Southern, Homozygote, Humans, Male, Middle Aged, Mutation, Missense, Polymorphism, Single-Stranded Conformational.
PubMed: 11009219
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003E86
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :003E86
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :004021
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :000365
Links to Exploration step
pubmed:11009219Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.</title>
<author><name sortKey="Dotti, M T" sort="Dotti, M T" uniqKey="Dotti M" first="M T" last="Dotti">M T Dotti</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena</wicri:regionArea>
<wicri:noRegion>University of Siena</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Federico, A" sort="Federico, A" uniqKey="Federico A" first="A" last="Federico">A. Federico</name>
</author>
<author><name sortKey="Garuti, R" sort="Garuti, R" uniqKey="Garuti R" first="R" last="Garuti">R. Garuti</name>
</author>
<author><name sortKey="Calandra, S" sort="Calandra, S" uniqKey="Calandra S" first="S" last="Calandra">S. Calandra</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2000">2000</date>
<idno type="RBID">pubmed:11009219</idno>
<idno type="pmid">11009219</idno>
<idno type="wicri:Area/PubMed/Corpus">003E86</idno>
<idno type="wicri:Area/PubMed/Curation">003E86</idno>
<idno type="wicri:Area/PubMed/Checkpoint">004021</idno>
<idno type="wicri:Area/Ncbi/Merge">000365</idno>
<idno type="wicri:Area/Ncbi/Curation">000365</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.</title>
<author><name sortKey="Dotti, M T" sort="Dotti, M T" uniqKey="Dotti M" first="M T" last="Dotti">M T Dotti</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Institute of Neurology, Unit of Neurometabolic Diseases, University of Siena</wicri:regionArea>
<wicri:noRegion>University of Siena</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Federico, A" sort="Federico, A" uniqKey="Federico A" first="A" last="Federico">A. Federico</name>
</author>
<author><name sortKey="Garuti, R" sort="Garuti, R" uniqKey="Garuti R" first="R" last="Garuti">R. Garuti</name>
</author>
<author><name sortKey="Calandra, S" sort="Calandra, S" uniqKey="Calandra S" first="S" last="Calandra">S. Calandra</name>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2000" type="published">2000</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Blotting, Southern</term>
<term>Cholestanetriol 26-Monooxygenase</term>
<term>Cytochrome P-450 Enzyme System (genetics)</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Lipid Metabolism, Inborn Errors (genetics)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Parkinsonian Disorders (enzymology)</term>
<term>Parkinsonian Disorders (genetics)</term>
<term>Polymorphism, Single-Stranded Conformational</term>
<term>Steroid Hydroxylases (genetics)</term>
<term>Xanthomatosis, Cerebrotendinous (complications)</term>
<term>Xanthomatosis, Cerebrotendinous (enzymology)</term>
<term>Xanthomatosis, Cerebrotendinous (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cytochrome P-450 Enzyme System</term>
<term>Steroid Hydroxylases</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Cholestanetriol 26-Monooxygenase</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Xanthomatosis, Cerebrotendinous</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinsonian Disorders</term>
<term>Xanthomatosis, Cerebrotendinous</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lipid Metabolism, Inborn Errors</term>
<term>Parkinsonian Disorders</term>
<term>Xanthomatosis, Cerebrotendinous</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Blotting, Southern</term>
<term>Homozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Polymorphism, Single-Stranded Conformational</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000365 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 000365 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Santé |area= MovDisordV3 |flux= Ncbi |étape= Curation |type= RBID |clé= pubmed:11009219 |texte= Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:11009219" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \ | NlmPubMed2Wicri -a MovDisordV3
This area was generated with Dilib version V0.6.23. |