Art

J-GLOBAL ID：202002249076071205   Reference number：20A2696063

A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders

運動障害を呈する先天性代謝異常の診断アルゴリズムの提案【JST・京大機械翻訳】

Author (1)： Ortigoza-Escobar Juan Dario (Movement Disorders Unit, Institut de Recerca Sant Joan de Deu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain)
Material： Frontiers in Neurology (Web)
Volume： 11  Page： 582160  Publication year： 2020 
JST Material Number： U7085A  ISSN： 1664-2295  Document type： Article
Article type： 文献レビュー  Country of issue： Switzerland (CHE)  Language： ENGLISH (EN)

Abstract/Point： Inherited metabolic diseases o...

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Thesaurus term： *algorithm ,  heredity ,  tremor(disease) ,  phenotype ,  literature review ,  metabolic disease ,  *movement disorder ,  radiology ,  ataxia ,  *inborn errors of metabolism ,  myoclonus ,  dystonia
Semi thesaurus term： 遺伝子検査 ,  神経学 ,  *診断アルゴリズム , 【Automatic Indexing@JST】

Author keywords (7)： dystonia ,  inborn error of metabolism ,  ataxia ,  myoclonus ,  chorea ,  athetosis ,  hypokinetic rigid syndrome

JST classification (1)： Nervous system diseases  (GN03000O)

Reference (183)：

• FerreiraCvan KarnebeekCVockleyJBlauN. A proposed nosology of inborn errors of metabolism. Genet Med. (2019) 21:102-6. doi: 10.1038/s41436-018-0022-829884839
• EgginkHKuiperAPeallKContarinoMBoshAPostB. Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning. Orphanet J Rare Dis. (2014) 9:177. doi: 10.1186/s13023-014-0177-625425461
• CordeiroDBullivantGSiriwardenaKEvansAKovayashiJCohnR. Genetic landscape of pediatric movement disorders and management implications. Neurol Genet. (2018) 4:e265. doi: 10.1212/NXG.000000000000026530283815
• SedelFSaudubrayJMRozeEAgidYVidailhetM. Movement disorders and inborn errors of metabolism in adults: a diagnostic approach. J Inherit Metab Dis. (2008) 31:308-18. doi: 10.1007/s10545-008-0854-518563632
• FerreiraCHoffmannGBlauN. Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders. Mol Genet Metab. (2019) 127:28-30. doi: 10.1016/j.ymgme.2019.03.00730928149

Terms in the title (4)： 運動障害 ,  先天性代謝異常 ,  診断アルゴリズム ,  提案