Abstract:
:Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propionic acidemia (23 cases), ornitine transcarbamylase deficiency (22 cases), and multiple carboxylase deficiency (15 cases). For these 188 patients, onset was most frequent in the neonatal period or early infancy. Approximately 30% of the patients had a family history of similar symptoms or diseases. Although the outcome of OA patients varied, patients with early onset generally had poor outcomes despite early detection. Of the 45 MMA patients whose clinical data were available, 25 were clinically vitamin B12-responsive, while the remaining 20 were non-responsive. A favorable outcome was obtained in 7 of the 25 B12-responsive patients, and in only 3 of the 20 B12-nonresponsive patients. It was suggested that even in B12-responsive MMA cases, earlier detection and B12 therapy were needed to improve the prognosis. We concluded that detection of such patients at the presymptomatic stages using newborn mass screening is essential for prognosis improvement with OAs.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Hori D,Hasegawa Y,Kimura M,Yang Y,Verma IC,Yamaguchi Sdoi
10.1016/j.braindev.2004.04.004keywords:
subject
Has Abstractpub_date
2005-01-01 00:00:00pages
39-45issue
1eissn
0387-7604issn
1872-7131pii
S0387760404000890journal_volume
27pub_type
杂志文章abstract::This is the first study to report differences between Japanese children with and without dyslexia in the way string-length and lexicality effects are manifested when reading Japanese kana. These children were asked to read kana words and non-words consisting of either two or five kana characters. The results showed th...
journal_title:Brain & development
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journal_title:Brain & development
pub_type: 杂志文章
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journal_title:Brain & development
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journal_title:Brain & development
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journal_title:Brain & development
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journal_title:Brain & development
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.08.008
更新日期:2007-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(79)80017-0
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journal_title:Brain & development
pub_type: 杂志文章,评审
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更新日期:2002-08-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.11.011
更新日期:2014-10-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80008-8
更新日期:1990-01-01 00:00:00
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journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.07.008
更新日期:2021-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00074-l
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journal_title:Brain & development
pub_type: 临床试验,杂志文章
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.11.005
更新日期:2005-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(79)80042-x
更新日期:1979-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.12.009
更新日期:2012-10-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00117-0
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.04.004
更新日期:2010-05-01 00:00:00
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journal_title:Brain & development
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(89)80066-x
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.06.008
更新日期:2006-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/s0387-7604(83)80024-2
更新日期:1983-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2009.03.007
更新日期:2009-08-01 00:00:00
abstract::MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-l...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.09.012
更新日期:2007-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.08.002
更新日期:2016-02-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章,多中心研究
doi:10.1016/j.braindev.2007.12.016
更新日期:2008-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.12.004
更新日期:2015-09-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00229-7
更新日期:2001-08-01 00:00:00