Distressing belching and neuroacanthocytosis
Identifieur interne : 000443 ( France/Analysis ); précédent : 000442; suivant : 000444Distressing belching and neuroacanthocytosis
Auteurs : Igor Sibon [France] ; Imad Ghorayeb [France] ; Pierre Arne [France] ; Francois Tison [France]Source :
- Movement disorders [ 0885-3185 ] ; 2004.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Chorea (complications), Chorea (diagnosis), Chorea (genetics), Chromosomes, Human, Pair 9 (genetics), Diaphragm (physiopathology), Dilatation, Pathologic (physiopathology), Electromyography, Electrooculography, Eructation (complications), Eructation (physiopathology), Gastrointestinal Tract (physiopathology), Humans, Male, Muscle, Skeletal (physiopathology), Nervous system diseases, Point Mutation (genetics), Polysomnography, Proteins (genetics), Vesicular Transport Proteins.
- MESH :
- chemical , genetics : Proteins.
- complications : Chorea, Eructation.
- diagnosis : Chorea.
- genetics : Chorea, Chromosomes, Human, Pair 9, Point Mutation.
- physiopathology : Diaphragm, Dilatation, Pathologic, Eructation, Gastrointestinal Tract, Muscle, Skeletal.
- Adult, Electromyography, Electrooculography, Humans, Male, Polysomnography, Vesicular Transport Proteins.
Abstract
We report on an uncommon manifestation of molecularly proven neuroacanthocytosis in a 32-year-old man in whom dyspnea with desaturation while awake accompanied by continuous involuntary belching were the major consequences of the disease.
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 002104
- to stream PascalFrancis, to step Curation: 000C17
- to stream PascalFrancis, to step Checkpoint: 002175
- to stream Main, to step Merge: 005A13
- to stream PubMed, to step Corpus: 003397
- to stream PubMed, to step Curation: 003397
- to stream PubMed, to step Checkpoint: 003489
- to stream Ncbi, to step Merge: 000E87
- to stream Ncbi, to step Curation: 000E87
- to stream Ncbi, to step Checkpoint: 000E87
- to stream Main, to step Merge: 005435
- to stream Main, to step Curation: 003E71
- to stream Main, to step Exploration: 003E71
- to stream France, to step Extraction: 000443
Links to Exploration step
Pascal:04-0455419Le document en format XML
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<term>Chorea (diagnosis)</term>
<term>Chorea (genetics)</term>
<term>Chromosomes, Human, Pair 9 (genetics)</term>
<term>Diaphragm (physiopathology)</term>
<term>Dilatation, Pathologic (physiopathology)</term>
<term>Electromyography</term>
<term>Electrooculography</term>
<term>Eructation (complications)</term>
<term>Eructation (physiopathology)</term>
<term>Gastrointestinal Tract (physiopathology)</term>
<term>Humans</term>
<term>Male</term>
<term>Muscle, Skeletal (physiopathology)</term>
<term>Nervous system diseases</term>
<term>Point Mutation (genetics)</term>
<term>Polysomnography</term>
<term>Proteins (genetics)</term>
<term>Vesicular Transport Proteins</term>
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<term>Gastrointestinal Tract</term>
<term>Muscle, Skeletal</term>
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<term>Electrooculography</term>
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<term>Male</term>
<term>Polysomnography</term>
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<front><div type="abstract" xml:lang="en">We report on an uncommon manifestation of molecularly proven neuroacanthocytosis in a 32-year-old man in whom dyspnea with desaturation while awake accompanied by continuous involuntary belching were the major consequences of the disease.</div>
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<name sortKey="Arne, Pierre" sort="Arne, Pierre" uniqKey="Arne P" first="Pierre" last="Arne">Pierre Arne</name>
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