MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases
MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases
About this item
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Author / Creator
Cheng, Ailan , Han, Lianshu , Feng, Yun , Li, Huimin , Yao, Rong , Wang, Dengbin and Jin, Biao
Publisher
Turkey: Galenos Yayinevi Tic. Ltd
Journal title
Language
English
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Publication information
Publisher
Turkey: Galenos Yayinevi Tic. Ltd
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Scope and Contents
Contents
We aimed to evaluate the magnetic resonance imaging (MRI) and clinical features of maple syrup urine disease (MSUD).
This retrospective study consisted of 10 MSUD patients confirmed by genetic testing. All patients underwent brain MRI. Phenotype, genotype, and areas of brain injury on MRI were retrospectively reviewed.
Six patients (60%) had...
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Full title
MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_77e3a1a5ba754a9baad10f208ff199d6
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_77e3a1a5ba754a9baad10f208ff199d6
Other Identifiers
ISSN
1305-3825
E-ISSN
1305-3612
DOI
10.5152/dir.2017.16466
