Cerebrotendinous xanthomatosis with predominant parkinsonian syndrome: further confirmation of the clinical heterogeneity.
Identifieur interne : 000365 ( Ncbi/Checkpoint ); 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
Affiliations:
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pubmed:11009219Le document en format XML
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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><affiliations><list><country><li>Italie</li></country></list><tree><noCountry><name sortKey="Calandra, S" sort="Calandra, S" uniqKey="Calandra S" first="S" last="Calandra">S. Calandra</name><name sortKey="Federico, A" sort="Federico, A" uniqKey="Federico A" first="A" last="Federico">A. Federico</name><name sortKey="Garuti, R" sort="Garuti, R" uniqKey="Garuti R" first="R" last="Garuti">R. Garuti</name></noCountry><country name="Italie"><noRegion><name sortKey="Dotti, M T" sort="Dotti, M T" uniqKey="Dotti M" first="M T" last="Dotti">M T Dotti</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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