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Galactosaemia: relationship of IQ to biochemical control and genotype.

作者信息

Cleary M A, Heptinstall L E, Wraith J E, Walter J H

机构信息

Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, UK.

出版信息

J Inherit Metab Dis. 1995;18(2):151-2. doi: 10.1007/BF00711752.

DOI:10.1007/BF00711752
PMID:7564232
Abstract
摘要

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Galactosaemia: relationship of IQ to biochemical control and genotype.
J Inherit Metab Dis. 1995;18(2):151-2. doi: 10.1007/BF00711752.
2
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Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia.与半乳糖血症相关的1-磷酸半乳糖尿苷酰转移酶S135L等位基因的生化特性
J Inherit Metab Dis. 1997 Sep;20(5):633-42. doi: 10.1023/a:1005314207513.
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Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations.先天性眼部畸形(晶状体半脱位、瞳孔移位、白内障、近视)与 Q188R 和/或 G1391A 突变相关的经典半乳糖血症。
Acta Ophthalmol. 2011 Aug;89(5):489-94. doi: 10.1111/j.1755-3768.2009.01691.x. Epub 2010 Mar 10.
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Clinical significance of plasma galactose and erythrocyte galactose-1-phosphate measurements in transferase-deficient galactosemia and in individuals with below-normal transferase activity.血浆半乳糖和红细胞1-磷酸半乳糖测量在转移酶缺乏型半乳糖血症及转移酶活性低于正常水平个体中的临床意义。
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Neonatal screening, clinical features and genetic testing for galactosemia.半乳糖血症的新生儿筛查、临床特征及基因检测
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GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN GALACTOSAEMIA.半乳糖血症中1-磷酸半乳糖尿苷酰转移酶活性
Nature. 1964 Aug 22;203:845-7. doi: 10.1038/203845a0.
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Prenatal and postnatal diagnostic difficulties in a family with rare alleles of the galactose-1-phosphate uridyl transferase locus.一个具有半乳糖-1-磷酸尿苷酰转移酶基因座罕见等位基因的家庭中的产前和产后诊断困难。
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A mouse model of galactose-1-phosphate uridyl transferase deficiency.1-磷酸半乳糖尿苷酰转移酶缺乏症的小鼠模型。
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Hypergonadotropic hypogonadism in two sisters with galactosaemia.两名患有半乳糖血症的姐妹出现高促性腺激素性性腺功能减退。
Arch Dis Child. 1984 Aug;59(8):781-3. doi: 10.1136/adc.59.8.781.

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Abnormal -glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.经典型半乳糖血症成人中IgG的异常聚糖岩藻糖基化、半乳糖基化和唾液酸化,膳食半乳糖摄入的影响
JIMD Rep. 2021 Jul 22;61(1):76-88. doi: 10.1002/jmd2.12237. eCollection 2021 Sep.
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Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.经典半乳糖血症成年患者的面部情绪识别和视觉信息处理缺陷。
Orphanet J Rare Dis. 2019 Feb 26;14(1):56. doi: 10.1186/s13023-019-0999-3.
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Clinical, molecular, and genetic evaluation of galactosemia in Turkish children.

本文引用的文献

1
Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.
J Pediatr. 1994 Aug;125(2):225-7. doi: 10.1016/s0022-3476(94)70197-0.
2
Long-term prognosis in galactosaemia: results of a survey of 350 cases.半乳糖血症的长期预后:350例病例的调查结果。
J Inherit Metab Dis. 1990;13(6):802-18. doi: 10.1007/BF01800204.
土耳其儿童半乳糖血症的临床、分子和基因评估
Turk Pediatri Ars. 2016 Dec 1;51(4):204-209. doi: 10.5152/TurkPediatriArs.2016.3759. eCollection 2016 Dec.
4
Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four cases.经典型半乳糖血症患儿的语音意识差异技能:四例描述性研究
JIMD Rep. 2013;10:45-52. doi: 10.1007/8904_2012_200. Epub 2012 Dec 29.
5
Correlates of language impairment in children with galactosaemia.半乳糖血症患儿语言障碍的相关因素
J Inherit Metab Dis. 2008 Aug;31(4):524-32. doi: 10.1007/s10545-008-0877-y. Epub 2008 Jul 12.
6
Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).两名成年女性半乳糖血症患者,卵巢功能正常,且具有相同的半乳糖-1-磷酸尿苷酰转移酶(GALT)突变(Q188R/R333G)。
J Inherit Metab Dis. 2003;26(1):75-9. doi: 10.1023/a:1024039916476.
7
Galactosemia.
Curr Treat Options Neurol. 2003 Jul;5(4):343-345. doi: 10.1007/s11940-003-0040-x.
8
A controversial expert witness.一位有争议的专家证人。
Arch Dis Child. 2000 Sep;83(3):250. doi: 10.1136/adc.83.3.250.
9
The relationship of genotype to cognitive outcome in galactosaemia.半乳糖血症中基因型与认知结果的关系。
Arch Dis Child. 2000 Sep;83(3):248-50. doi: 10.1136/adc.83.3.248.