MovDisordV3, Main, Exploration, bibRecord, 004215

Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl

Identifieur interne : 004215 ( Main/Exploration ); précédent : 004214; suivant : 004216

Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl

Auteurs : Emilio Fernandez-Alvarez [Espagne] ; Angeles Garcia-Cazorla [Espagne] ; Anna Sans [Espagne] ; Cristina Boix [Espagne] ; Maria Antonia Vilaseca [Espagne] ; Christianne Busquets [Espagne] ; Antonia Ribes [Espagne]

Source :

Movement disorders [ 0885-3185 ] ; 2003.

RBID : Pascal:04-0052655

Descripteurs français

Pascal (Inist)
- Acidurie, Glutarique acide, Tremblement, Membre supérieur, Main, Dyskinésie buccofaciale, Etude cas, Diagnostic, Phénotype, Adolescent, Femelle.

English descriptors

KwdEn :
- Aciduria, Adolescent, Buccofacial dyskinesia, Case study, Diagnosis, Female, Glutaric acid, Hand, Phenotype, Tremor, Upper limb.

Abstract

A 16-year-old girl with a history of postural hand tremor was investigated. Magnetic resonance imaging, biochemical, enzymatic, and molecular studies demonstrated glutaric aciduria type I (GA1). Now, at 19 years of age, focal dystonia and oral dyskinesia are also present. This is the first reported case of GA1 with such clinical phenotype.

Affiliations:

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 002398
to stream PascalFrancis, to step Curation: 000923
to stream PascalFrancis, to step Checkpoint: 002442
to stream Main, to step Merge: 005F88
to stream Main, to step Curation: 004215

Le document en format XML

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<author><name sortKey="Garcia Cazorla, Angeles" sort="Garcia Cazorla, Angeles" uniqKey="Garcia Cazorla A" first="Angeles" last="Garcia-Cazorla">Angeles Garcia-Cazorla</name>
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<author><name sortKey="Ribes, Antonia" sort="Ribes, Antonia" uniqKey="Ribes A" first="Antonia" last="Ribes">Antonia Ribes</name>
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<author><name sortKey="Garcia Cazorla, Angeles" sort="Garcia Cazorla, Angeles" uniqKey="Garcia Cazorla A" first="Angeles" last="Garcia-Cazorla">Angeles Garcia-Cazorla</name>
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<author><name sortKey="Sans, Anna" sort="Sans, Anna" uniqKey="Sans A" first="Anna" last="Sans">Anna Sans</name>
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<author><name sortKey="Boix, Cristina" sort="Boix, Cristina" uniqKey="Boix C" first="Cristina" last="Boix">Cristina Boix</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Neuropediatric Department, Unitat Integrada Hospital Saut Joan de Déu</s1>
<s2>Barcelona</s2>
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<author><name sortKey="Vilaseca, Maria Antonia" sort="Vilaseca, Maria Antonia" uniqKey="Vilaseca M" first="Maria Antonia" last="Vilaseca">Maria Antonia Vilaseca</name>
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<author><name sortKey="Busquets, Christianne" sort="Busquets, Christianne" uniqKey="Busquets C" first="Christianne" last="Busquets">Christianne Busquets</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Clinical Biochemistry Institute, Hospital Clínic</s1>
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<author><name sortKey="Ribes, Antonia" sort="Ribes, Antonia" uniqKey="Ribes A" first="Antonia" last="Ribes">Antonia Ribes</name>
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</placeName>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aciduria</term>
<term>Adolescent</term>
<term>Buccofacial dyskinesia</term>
<term>Case study</term>
<term>Diagnosis</term>
<term>Female</term>
<term>Glutaric acid</term>
<term>Hand</term>
<term>Phenotype</term>
<term>Tremor</term>
<term>Upper limb</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Acidurie</term>
<term>Glutarique acide</term>
<term>Tremblement</term>
<term>Membre supérieur</term>
<term>Main</term>
<term>Dyskinésie buccofaciale</term>
<term>Etude cas</term>
<term>Diagnostic</term>
<term>Phénotype</term>
<term>Adolescent</term>
<term>Femelle</term>
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<front><div type="abstract" xml:lang="en">A 16-year-old girl with a history of postural hand tremor was investigated. Magnetic resonance imaging, biochemical, enzymatic, and molecular studies demonstrated glutaric aciduria type I (GA1). Now, at 19 years of age, focal dystonia and oral dyskinesia are also present. This is the first reported case of GA1 with such clinical phenotype.</div>
</front>
</TEI>
<affiliations><list><country><li>Espagne</li>
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<region><li>Catalogne</li>
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<settlement><li>Barcelone</li>
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<tree><country name="Espagne"><region name="Catalogne"><name sortKey="Fernandez Alvarez, Emilio" sort="Fernandez Alvarez, Emilio" uniqKey="Fernandez Alvarez E" first="Emilio" last="Fernandez-Alvarez">Emilio Fernandez-Alvarez</name>
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<name sortKey="Boix, Cristina" sort="Boix, Cristina" uniqKey="Boix C" first="Cristina" last="Boix">Cristina Boix</name>
<name sortKey="Busquets, Christianne" sort="Busquets, Christianne" uniqKey="Busquets C" first="Christianne" last="Busquets">Christianne Busquets</name>
<name sortKey="Garcia Cazorla, Angeles" sort="Garcia Cazorla, Angeles" uniqKey="Garcia Cazorla A" first="Angeles" last="Garcia-Cazorla">Angeles Garcia-Cazorla</name>
<name sortKey="Ribes, Antonia" sort="Ribes, Antonia" uniqKey="Ribes A" first="Antonia" last="Ribes">Antonia Ribes</name>
<name sortKey="Sans, Anna" sort="Sans, Anna" uniqKey="Sans A" first="Anna" last="Sans">Anna Sans</name>
<name sortKey="Vilaseca, Maria Antonia" sort="Vilaseca, Maria Antonia" uniqKey="Vilaseca M" first="Maria Antonia" last="Vilaseca">Maria Antonia Vilaseca</name>
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</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl

Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri