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科威特及阿拉伯国家的苯丙酮尿症

Phenylketonuria in Kuwait and Arab countries.

作者信息

Teebi A S, Al-Awadi S A, Farag T I, Naguib K K, el-Khalifa M Y

出版信息

Eur J Pediatr. 1987 Jan;146(1):59-60. doi: 10.1007/BF00647286.

DOI:10.1007/BF00647286
PMID:3582406
Abstract

Seven cases of phenylketonuria including a pair of siblings were detected among 451 institutionalized mentally retarded individuals in Kuwait. A further 13 cases from eight Arab families of different nationalities were ascertained among referral cases. The occurrence of phenylketonuria in Kuwait and other Arab countries is discussed in view of the high consanguinity rate and large family size. Our findings stress the need for neonatal screening.

摘要

在科威特451名被收容的智力迟钝者中检测出7例苯丙酮尿症患者,其中包括一对兄弟姐妹。在转诊病例中又确诊了来自8个不同国籍阿拉伯家庭的13例患者。鉴于近亲结婚率高和家庭规模大,讨论了科威特和其他阿拉伯国家苯丙酮尿症的发病情况。我们的研究结果强调了新生儿筛查的必要性。

相似文献

1
Phenylketonuria in Kuwait and Arab countries.科威特及阿拉伯国家的苯丙酮尿症
Eur J Pediatr. 1987 Jan;146(1):59-60. doi: 10.1007/BF00647286.
2
Disease profile of 400 institutionalized mentally retarded patients in Kuwait.科威特400名收容机构中智力障碍患者的疾病概况。
Clin Genet. 1993 Dec;44(6):329-34. doi: 10.1111/j.1399-0004.1993.tb03910.x.
3
Aminoacidopathies among institutionalised mentally retarded in Kuwait.科威特机构收容的智力迟钝者中的氨基酸病
Clin Genet. 1992 Oct;42(4):212. doi: 10.1111/j.1399-0004.1992.tb03241.x.
4
Natural history of phenylketonuria and influence of early treatment.苯丙酮尿症的自然病史及早期治疗的影响
Lancet. 1974 Sep 7;2(7880):540-4. doi: 10.1016/s0140-6736(74)91873-x.
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One too many: intellectual disability secondary to undiagnosed phenylketonuria.过量之害:未确诊苯丙酮尿症继发的智力残疾。
Hong Kong Med J. 2016 Oct;22(5):506-8. doi: 10.12809/hkmj144500.
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Mental retardation in a family with phenylketonuria and mild hyperphenylalaninemia.一个患有苯丙酮尿症和轻度高苯丙氨酸血症的家族中的智力迟钝。
Pediatrics. 1969 Nov;44(5):655-60.
7
Prevalence of phenylketonuria and some other metabolic disorders among mentally retarded patients in Finland.芬兰智障患者中苯丙酮尿症及其他一些代谢紊乱疾病的患病率。
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Frequency of phenylketonuria in Norway.挪威苯丙酮尿症的发病率。
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The incidence of phenylketonuria in Thailand.泰国苯丙酮尿症的发病率。
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引用本文的文献

1
The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review.阿拉伯国家、土耳其和伊朗苯丙酮尿症的流行情况:系统评价。
Biomed Res Int. 2018 Apr 18;2018:7697210. doi: 10.1155/2018/7697210. eCollection 2018.
2
Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar.基因检测与基因组分析:阿拉伯世界伦理、社会及法律问题辩论,聚焦卡塔尔
J Transl Med. 2015 Nov 14;13:358. doi: 10.1186/s12967-015-0720-9.
3
Prevalence of classical phenylketonuria in mentally retarded individuals in Iran.

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Phenylpyruvic oligophrenia.苯丙酮尿性智力发育不全
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2
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.一种用于检测氨基酸代谢紊乱的简单色谱筛查试验。一种使用滤纸采集的全血或尿液的技术。
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伊朗智障人群中经典苯丙酮尿症的流行率。
J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S283-7. doi: 10.1007/s10545-009-1222-9. Epub 2009 Sep 19.
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Germ cell apoptosis after treatment of cryptorchidism with human chorionic gonadotropin is associated with impaired reproductive function in the adult.用人绒毛膜促性腺激素治疗隐睾症后生殖细胞凋亡与成年期生殖功能受损有关。
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Autosomal recessive disorders among Arabs: an overview from Kuwait.阿拉伯人群中的常染色体隐性疾病:科威特的概述
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Arch Dis Child. 1962 Oct;37(195):505-13. doi: 10.1136/adc.37.195.505.
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Phenylketonuria in a child from the Middle East.一名来自中东儿童的苯丙酮尿症
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6
Phenylpyruvic oligophrenia (phenylketonuria).苯丙酮尿性智力发育不全(苯丙酮尿症)
Res Publ Assoc Res Nerv Ment Dis. 1954;33:259-82.
7
Influence of phenylalanine intake on phenylketonuria.苯丙氨酸摄入对苯丙酮尿症的影响。
Lancet. 1953 Oct 17;265(6790):812-3. doi: 10.1016/s0140-6736(53)90473-5.
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Biochemical screening for inherited metabolic disorders in the mentally retarded.对智力迟钝者进行遗传性代谢疾病的生化筛查。
S Afr Med J. 1981 Nov 7;60(19):731-3.
9
Admissions of phenylketonuric patients to residential institutions before and after screening programs of the newborn infant.新生儿筛查项目前后苯丙酮尿症患者入住寄宿机构的情况。
J Pediatr. 1974 Sep;85(3):383-5. doi: 10.1016/s0022-3476(74)80124-1.
10
Consanguinity among the Kuwaiti population.科威特人口中的近亲结婚现象。
Clin Genet. 1985 May;27(5):483-6. doi: 10.1111/j.1399-0004.1985.tb00236.x.