"Acquired" hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene.
Identifieur interne : 001C63 ( PubMed/Curation ); précédent : 001C62; suivant : 001C64"Acquired" hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene.
Auteurs : Giovanni Antonio Cocco ; Georgios Loudianos ; Giovanni Mario Pes ; Francesco Tolu ; Maria Barbara Lepori ; Marianna Barrocu ; Gian Pietro SechiSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- Adenosine Triphosphatases (genetics), Adenosine Triphosphatases (physiology), Adult, Amino Acid Substitution, Basal Ganglia (pathology), Cation Transport Proteins (genetics), Cation Transport Proteins (physiology), Copper (metabolism), DNA Mutational Analysis, Exons (genetics), Genetic Predisposition to Disease, Hepatitis C, Chronic (complications), Hepatolenticular Degeneration (genetics), Hepatolenticular Degeneration (metabolism), Heterozygote, Humans, Hydrophobic and Hydrophilic Interactions, Liver Cirrhosis (complications), Male, Mutation, Missense, Penicillamine (adverse effects), Penicillamine (therapeutic use), Protein Structure, Secondary, Thrombocytopenia (chemically induced), Trihexyphenidyl (therapeutic use).
- MESH :
- chemical , adverse effects : Penicillamine.
- chemical , genetics : Adenosine Triphosphatases, Cation Transport Proteins.
- chemical , metabolism : Copper.
- chemical , physiology : Adenosine Triphosphatases, Cation Transport Proteins.
- chemically induced : Thrombocytopenia.
- complications : Hepatitis C, Chronic, Liver Cirrhosis.
- genetics : Exons, Hepatolenticular Degeneration.
- metabolism : Hepatolenticular Degeneration.
- pathology : Basal Ganglia.
- chemical , therapeutic use : Penicillamine, Trihexyphenidyl.
- Adult, Amino Acid Substitution, DNA Mutational Analysis, Genetic Predisposition to Disease, Heterozygote, Humans, Hydrophobic and Hydrophilic Interactions, Male, Mutation, Missense, Protein Structure, Secondary.
DOI: 10.1002/mds.22659
PubMed: 19514071
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sortKey="Barrocu, Marianna" sort="Barrocu, Marianna" uniqKey="Barrocu M" first="Marianna" last="Barrocu">Marianna Barrocu</name></author><author><name sortKey="Sechi, Gian Pietro" sort="Sechi, Gian Pietro" uniqKey="Sechi G" first="Gian Pietro" last="Sechi">Gian Pietro Sechi</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22659</idno><idno type="RBID">pubmed:19514071</idno><idno type="pmid">19514071</idno><idno type="wicri:Area/PubMed/Corpus">001C63</idno><idno type="wicri:Area/PubMed/Curation">001C63</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">"Acquired" hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene.</title><author><name sortKey="Cocco, Giovanni Antonio" sort="Cocco, Giovanni Antonio" uniqKey="Cocco G" first="Giovanni Antonio" last="Cocco">Giovanni Antonio Cocco</name></author><author><name sortKey="Loudianos, Georgios" sort="Loudianos, Georgios" uniqKey="Loudianos G" first="Georgios" last="Loudianos">Georgios Loudianos</name></author><author><name sortKey="Pes, Giovanni Mario" sort="Pes, Giovanni Mario" uniqKey="Pes G" first="Giovanni Mario" last="Pes">Giovanni Mario Pes</name></author><author><name sortKey="Tolu, Francesco" sort="Tolu, Francesco" uniqKey="Tolu F" first="Francesco" last="Tolu">Francesco Tolu</name></author><author><name sortKey="Lepori, Maria Barbara" sort="Lepori, Maria Barbara" uniqKey="Lepori M" first="Maria Barbara" last="Lepori">Maria Barbara Lepori</name></author><author><name sortKey="Barrocu, Marianna" sort="Barrocu, Marianna" uniqKey="Barrocu M" first="Marianna" last="Barrocu">Marianna Barrocu</name></author><author><name sortKey="Sechi, Gian Pietro" sort="Sechi, Gian Pietro" uniqKey="Sechi G" first="Gian Pietro" last="Sechi">Gian Pietro Sechi</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder 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Status="MEDLINE"><PMID Version="1">19514071</PMID><DateCreated><Year>2009</Year><Month>09</Month><Day>01</Day></DateCreated><DateCompleted><Year>2010</Year><Month>01</Month><Day>15</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>11</Issue><PubDate><Year>2009</Year><Month>Aug</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>"Acquired" hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene.</ArticleTitle><Pagination><MedlinePgn>1706-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22659</ELocationID><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Cocco</LastName><ForeName>Giovanni Antonio</ForeName><Initials>GA</Initials></Author><Author ValidYN="Y"><LastName>Loudianos</LastName><ForeName>Georgios</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Pes</LastName><ForeName>Giovanni Mario</ForeName><Initials>GM</Initials></Author><Author ValidYN="Y"><LastName>Tolu</LastName><ForeName>Francesco</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Lepori</LastName><ForeName>Maria Barbara</ForeName><Initials>MB</Initials></Author><Author ValidYN="Y"><LastName>Barrocu</LastName><ForeName>Marianna</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Sechi</LastName><ForeName>Gian Pietro</ForeName><Initials>GP</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016422">Letter</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D027682">Cation Transport Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>6RC5V8B7PO</RegistryNumber><NameOfSubstance UI="D014282">Trihexyphenidyl</NameOfSubstance></Chemical><Chemical><RegistryNumber>789U1901C5</RegistryNumber><NameOfSubstance UI="D003300">Copper</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.6.1.-</RegistryNumber><NameOfSubstance UI="D000251">Adenosine 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MajorTopicYN="N" UI="Q000150">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006527">Hepatolenticular Degeneration</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006579">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D057927">Hydrophobic and Hydrophilic Interactions</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008103">Liver Cirrhosis</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020125">Mutation, Missense</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010396">Penicillamine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000009">adverse effects</QualifierName><QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017433">Protein Structure, Secondary</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013921">Thrombocytopenia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000139">chemically induced</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014282">Trihexyphenidyl</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000627">therapeutic use</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>6</Month><Day>11</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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