Abstract：
:Carrier detection for 12 women and prenatal diagnosis for six fetuses in Japanese families with a patient with Menkes disease (MNK) were performed by gene analysis and/or measurement of the copper concentration in cultured cells. Six out of eight mothers of MNK patients were carriers while two (25%) were not carriers. Two unrelated patients showed the same mutation (R986X): one patient's mother was a carrier while the other was not. One male and three female fetuses did not have the same mutant allele as the respective MNK proband and have been healthy since birth. One female fetus had the same mutant allele as her affected brother. Gene analysis is very useful and reliable, although such examination is only indicated in families in which a mutation has been identified. In one family in which a mutation in ATP7A was not found, cultured amniocytes from a male fetus had a high copper concentration. Thus after his birth, the biochemical findings confirmed the presence of MNK and early treatment was started. As his early treatment with parenteral copper-histidine prevented the neurological disorders effectively, prenatal diagnosis is very important.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Gu YH,Kodama H,Sato E,Mochizuki D,Yanagawa Y,Takayanagi M,Sato K,Ogawa A,Ushijima H,Lee CCdoi
10.1016/s0387-7604(02)00093-1keywords:
subject
Has Abstractpub_date
2002-10-01 00:00:00pages
715-8issue
7eissn
0387-7604issn
1872-7131pii
S0387760402000931journal_volume
24pub_type
杂志文章abstract：OBJECTIVE:Cognitive impairments had been reported in childhood acute lymphoblastic leukemia, what caused the impairments needed to be demonstrated, chemotherapy-related or the disease itself. The primary aim of this exploratory investigation was to determine if there were changes in brain function of children with acut...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.04.014
更新日期：2017-10-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00064-8
更新日期：1997-11-01 00:00:00
abstract：:We report the 3rd case in the literature of a 3-year-old boy with D-2-hydroxyglutaric (D-2-HG) aciduria, who presented primarily generalized hypotonia and feeding difficulty during the neonatal period, with eventual development of generalized myoclonic seizures. Gas chromatographic analysis of urinary organic acids sh...
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pub_type： 杂志文章,评审
doi：10.1016/0387-7604(94)00123-f
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pub_type： 杂志文章
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journal_title：Brain & development
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doi：10.1016/s0387-7604(12)80072-6
更新日期：1990-01-01 00:00:00
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更新日期：2001-11-01 00:00:00
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更新日期：2005-08-01 00:00:00
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更新日期：1996-11-01 00:00:00
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pub_type： 杂志文章
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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.2019.01.006
更新日期：2019-05-01 00:00:00
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journal_title：Brain & development
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更新日期：2020-02-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2016-08-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.08.012
更新日期：2020-01-01 00:00:00
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journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/j.braindev.2009.03.010
更新日期：2010-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(95)00021-3
更新日期：1995-05-01 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
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.2018.04.008
更新日期：2018-09-01 00:00:00
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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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更新日期：2003-12-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,多中心研究
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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.2005.12.004
更新日期：2006-08-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.05.001
更新日期：2008-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00047-f
更新日期：1995-07-01 00:00:00
abstract：:Somatomotor cortex of mice with microcephaly induced by DNA polymerase inhibitor cytosine arabinoside (Ara-C), has been studied with a modified Golgi-Cox staining and a HRP retrograde tracing method. Microcephalic mice were prepared by prenatal injections of cytosine arabinoside on days 13.5 and 14.5 of pregnancy. Cyt...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80096-0
更新日期：1984-01-01 00:00:00
abstract：:Oral motor patterns during feeding were investigated in 58 patients with severe physical disability. Five patients showed a pattern resembling sucking. Twenty-nine exhibited an up-and-down movement of the jaw and protrusion of the tongue. Among these, the mouth opened when the food entered and the lips closed before s...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00077-6
更新日期：1997-12-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90048-5
更新日期：1994-03-01 00:00:00
abstract：:Seventeen normal term infants delivered at the Jikei University School of Medicine were placed daily on a pedoscope in the supine and prone position after birth, and the movement of the gravity center and changes in the activities of the extremities were assessed. The results indicated that both the activity of the ex...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80118-8
更新日期：1986-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.10.002
更新日期：2016-04-01 00:00:00
