Abstract:
:Debate continues as to why executive function (EF) continues to show impairments in children with early and continuously treated phenylketonuria (ECT-PKU). Using a mixed model, we measured EF in 10 adolescent children with ECT-PKU and 6 sibling controls, and examined associations between EF and (1) phenylalanine (phe) and (2) the phenylalanine : tyrosine ratio (phe : tyr). Measurements were taken on two occasions anticipated to yield variation in concurrent biochemistry resulting from changes in dietary compliance (i.e. holiday vs non-holiday period). A repeated measures anova using the Behaviour Rating Inventory of Executive Function yielded the following results: no significant interactions; two significant group effects of substantially impaired working memory and initiation skills in children with ECT-PKU compared with controls, irrespective of occasion and two significant time effects, suggestive of slightly poorer non-holiday planning and organization scores in both groups. Further analyses revealed that phe levels were not significantly different on these occasions, suggesting that holiday dietary compliance may be better than expected. Correlations between EF and biochemistry in children with PKU showed that participant's lifetime phe : tyr ratio was positively and significantly associated with EF impairment, more so than phe-only measures.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Sharman R,Sullivan K,Young R,McGill Jdoi
10.1111/j.1399-0004.2008.01101.xsubject
Has Abstractpub_date
2009-02-01 00:00:00pages
169-74issue
2eissn
0009-9163issn
1399-0004pii
CGE1101journal_volume
75pub_type
杂志文章abstract::Two cases of previously unreported simultaneous presence of A and B postaxial polydactyly in two brothers out of 12 affected members of a kindred are reported. The findings are consistent with the hypothesis that in this family A and b types of postaxial polydactyly are caused by a single gene rather than by two diffe...
journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1980.tb02294.x
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journal_title:Clinical genetics
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doi:
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abstract::Congenital long QT syndrome (LQTS) is an inherited potentially fatal arrhythmogenic disorder that is characterized by prolonged corrected QT (QTc) interval. Mutations in three genes (KCNQ1, KCNH2, and SCN5A) account for the majority of the cases. However, 10 other genes are now known to be implicated in LQTS. In this ...
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abstract::Women who carry fragile X mental retardation 1 (FMR1)gene premutation expansions frequently report neurological or endocrine symptoms and prior studies have predominantly focused on questionnaire report of medical issues. Premutation carrier (PMC) women (n = 33) and non-carrier controls (n = 13) were recruited and eva...
journal_title:Clinical genetics
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doi:10.1111/cge.12646
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abstract::The roles of genetic polymorphisms in the pathogenesis of recurrent miscarriage (RM) have been intensively studied. However, the results of these studies were inconsistent, especially when conducted in different populations. Therefore, we performed the current study to systematically review the broad spectrum of genet...
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pub_type: 杂志文章,meta分析,评审
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journal_title:Clinical genetics
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pub_type: 杂志文章
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doi:10.1034/j.1399-0004.2001.600108.x
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pub_type: 杂志文章,评审
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更新日期:2003-10-01 00:00:00
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更新日期:2011-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.12064
更新日期:2013-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1111/cge.13186
更新日期:2018-03-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1986.tb01913.x
更新日期:1986-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12590
更新日期:2016-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1111/j.1399-0004.2007.00903.x
更新日期:2007-12-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/cge.12197
更新日期:2014-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1984.tb01092.x
更新日期:1984-11-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
doi:10.1034/j.1399-0004.2001.590301.x
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb02959.x
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journal_title:Clinical genetics
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1976.tb01568.x
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1993.tb03904.x
更新日期:1993-12-01 00:00:00
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更新日期:2017-11-01 00:00:00
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journal_title:Clinical genetics
pub_type: 历史文章,杂志文章,评审
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更新日期:1999-10-01 00:00:00