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对韦塞克斯一家智障人士医院的患者进行尿液检查,以筛查氨基酸或黏多糖代谢异常情况。

Urinary screening for abnormalities of amino acid or mucopolysaccharide metabolism in patients in a hospital for the mentally handicapped in Wessex.

作者信息

Walker V, Smythe P J, Cook N J, Ball N A, Veall R M, Whiteman P

出版信息

J Ment Defic Res. 1983 Jun;27 (Pt 2):105-14. doi: 10.1111/j.1365-2788.1983.tb00283.x.

DOI:10.1111/j.1365-2788.1983.tb00283.x
PMID:6225873
Abstract

Urine from 348 patients of a hospital for the mentally handicapped in Wessex was screened for abnormalities of aminoacid and mucopolysaccharide excretion. Persistent aminoacid abnormalities were found in 16 patients: two had phenylketonuria and one a severe variant form of hyperphenylalaninaemia (dihydropteridine reductase deficiency). In at least nine of the other patients, the observed abnormality was probably a secondary phenomenon. Two patients excreted excessive amounts of a glycosaminoglycan identified tentatively as hyaluronic acid. The study also uncovered one undiagnosed diabetic and three patients with urinary tract infection.

摘要

对韦塞克斯一家智障医院的348名患者的尿液进行了氨基酸和黏多糖排泄异常筛查。在16名患者中发现了持续性氨基酸异常:2名患有苯丙酮尿症,1名患有严重的高苯丙氨酸血症变异型(二氢蝶啶还原酶缺乏症)。在至少其他9名患者中,观察到的异常可能是一种继发现象。2名患者排泄出过量的一种暂定为透明质酸的糖胺聚糖。该研究还发现了1例未确诊的糖尿病患者和3例尿路感染患者。

相似文献

1
Urinary screening for abnormalities of amino acid or mucopolysaccharide metabolism in patients in a hospital for the mentally handicapped in Wessex.对韦塞克斯一家智障人士医院的患者进行尿液检查,以筛查氨基酸或黏多糖代谢异常情况。
J Ment Defic Res. 1983 Jun;27 (Pt 2):105-14. doi: 10.1111/j.1365-2788.1983.tb00283.x.
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Screening for biochemical abnormalities in the urine of the mentally handicapped in Dublin.都柏林对智障人士尿液中的生化异常进行筛查。
J Ment Defic Res. 1972 Jun;16(2):128-38. doi: 10.1111/j.1365-2788.1972.tb01584.x.
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Organic acidurias and amino acidurias in the aetiology of long-term mental handicap.长期智力障碍病因中的有机酸尿症和氨基酸尿症。
J Ment Defic Res. 1980 Dec;24 Pt 4:257-70. doi: 10.1111/j.1365-2788.1980.tb00080.x.
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Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden.瑞典北部机构中智障患者的尿液代谢筛查。
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Amino acid excretion in infancy and early childhood. A survey of 200,000 infants.婴儿期和幼儿期的氨基酸排泄。对20万名婴儿的调查。
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Acta Ophthalmol (Copenh). 1968;46(3):404-12. doi: 10.1111/j.1755-3768.1968.tb02823.x.
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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。
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[Certain aspects of the biochemistry of urine in families with handicapped children].
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Urinary screening for disorders of heteroglycan metabolism. Results of 10 years experience with a comprehensive system.用于杂聚糖代谢紊乱的尿液筛查。一个综合系统十年经验的结果。
Klin Wochenschr. 1988 Jan 15;66(2):48-53. doi: 10.1007/BF01713010.