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Diagnosis of Hurler's syndrome in the hospital laboratory and the determination of its genetic type.

作者信息

Manley G, Hawksworth J

出版信息

Arch Dis Child. 1966 Feb;41(215):91-6. doi: 10.1136/adc.41.215.91.

DOI:10.1136/adc.41.215.91
PMID:4222086
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2019546/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ff/2019546/5e36b6b80527/archdisch01568-0103-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ff/2019546/5e36b6b80527/archdisch01568-0103-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/45ff/2019546/5e36b6b80527/archdisch01568-0103-a.jpg

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Diagnosis of Hurler's syndrome in the hospital laboratory and the determination of its genetic type.在医院实验室对黏多糖贮积症I型进行诊断并确定其基因类型。
Arch Dis Child. 1966 Feb;41(215):91-6. doi: 10.1136/adc.41.215.91.
2
[Case of Hurler's disease].[黏多糖贮积症Ⅰ型病例]
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3
[Hurler's syndrome].
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4
Early prenatal diagnosis of Hurler's syndrome with termination of pregnancy and confirmatory findings on the fetus.通过终止妊娠对黏多糖贮积症I型进行早期产前诊断及胎儿的确证性检查结果。
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Early diagnosis of Hurler's syndrome with the aid of the identification of the characteristic gibbus deformity.借助特征性驼背畸形的识别对黏多糖贮积症Ⅰ型进行早期诊断。
Mil Med. 1998 Oct;163(10):711-4.
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Hurler's, Hunter's and Morquio's syndromes. A biochemical study in the light of current views of the underlying defects.胡勒氏综合征、亨特氏综合征和莫尔基奥氏综合征。基于对潜在缺陷的当前观点的生化研究。
Biochem J. 1971 Aug;123(5):883-94. doi: 10.1042/bj1230883.
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Hurler's syndrome. A genetic study in cell culture.胡勒氏综合征。细胞培养中的一项遗传学研究。
J Exp Med. 1966 Jan 1;123(1):1-16. doi: 10.1084/jem.123.1.1.
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A familial occurrence of a mucopolysaccharidosis: Hurler's or Hunter's syndrome?黏多糖贮积症的家族性发病：胡尔勒综合征还是亨特综合征？
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本文引用的文献

1
A Rare Disease in Two Brothers.两兄弟患同一种罕见病。
Proc R Soc Med. 1917;10(Sect Study Dis Child):104-16. doi: 10.1177/003591571701001833.
2
OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.黏多糖贮积症Ⅰ型中尿酸性黏多糖的出现情况。
Proc Natl Acad Sci U S A. 1957 Jun 15;43(6):443-6. doi: 10.1073/pnas.43.6.443.
3
Aliphatic ammonium salts in the assay of acidic polysaccharides from tissues.组织中酸性多糖测定中的脂肪族铵盐
用于快速检测黏多糖贮积症的视觉检测方法的可靠性：GAG-Test(®)。
J Clin Lab Anal. 2011;25(3):179-84. doi: 10.1002/jcla.20453.
4
Mucopolysaccharidosis type VI presenting in infancy with endocardial fibroelastosis and heart failure.婴儿期表现为心内膜弹力纤维增生症和心力衰竭的Ⅵ型黏多糖贮积症。
Pediatr Cardiol. 1983 Jan-Mar;4(1):61-2. doi: 10.1007/BF02281012.
5
The quantitative determination of glycosaminoglycans in urine with Alcian Blue 8GX.用阿尔辛蓝8GX对尿液中糖胺聚糖进行定量测定。
Biochem J. 1973 Feb;131(2):351-7. doi: 10.1042/bj1310351.
6
Urinary excretion of glycosaminoglycans in the various forms of gargoylism.各种形式的黏多糖贮积症中糖胺聚糖的尿排泄情况。
J Clin Pathol. 1969 Jan;22(1):67-75. doi: 10.1136/jcp.22.1.67.
7
[Quantitative determination of acid mucopolysaccharides in urine].[尿中酸性粘多糖的定量测定]
Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1969;177(1):18-20. doi: 10.1007/BF02385142.
8
[The heparitinsulfate mucopolysaccharidosis (Sanfilippo). Clinical, biochemical, genetic and morphological studies].[硫酸乙酰肝素黏多糖贮积症（桑菲利波综合征）。临床、生化、遗传及形态学研究]
Klin Wochenschr. 1967 May 15;45(10):497-504. doi: 10.1007/BF01716364.
9
Histochemistry of Alcian blue. 3. The molecular biological basis of staining by Alcian blue 8GX and analogous phthalocyanins.阿尔辛蓝组织化学。3. 阿尔辛蓝8GX及类似酞菁染料染色的分子生物学基础。
Histochemie. 1972;32(3):191-212. doi: 10.1007/BF00306028.
10
Biochemical studies of otosclerosis: urinary acid mucopolysaccharides.
Arch Klin Exp Ohren Nasen Kehlkopfheilkd. 1970;197(1):1-6. doi: 10.1007/BF00300281.
Methods Biochem Anal. 1960;8:145-97. doi: 10.1002/9780470110249.ch4.
4
CHANGES IN VASCULAR MUCOPOLYSACCHARIDES WITH AGE AND BLOOD PRESSURE.血管黏多糖随年龄和血压的变化
Br J Exp Pathol. 1965 Apr;46(2):125-34.
5
DIAGNOSTIC TEST FOR GARGOYLISM.黏多糖贮积症的诊断测试。
Lancet. 1964 Aug 22;2(7356):420. doi: 10.1016/s0140-6736(64)90442-8.
6
DISTINCTION AMONG FOUR FORMS OF HURLER'S SYNDROME.黏多糖贮积症Ⅰ型四种形式的鉴别
Proc Soc Exp Biol Med. 1964 Feb;115:394-402. doi: 10.3181/00379727-115-28923.
7
THE DIAGNOSTIC VALUE OF ISOLATED URINARY MUCOPOLYSACCHARIDES AND OF LYMPHOCYTE INCLUSIONS IN GARGOYLISM.孤立性尿黏多糖及淋巴细胞包涵体在黏多糖贮积症中的诊断价值
Arch Dis Child. 1963 Aug;38(200):358-63. doi: 10.1136/adc.38.200.358.
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Morquio's disease: An abnormality of mucopolysaccharide metabolism.莫尔基奥氏病：一种黏多糖代谢异常疾病。
J Pediatr. 1963 Jun;62:881-9. doi: 10.1016/s0022-3476(63)80102-x.
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A modified uronic acid carbazole reaction.一种改良的糖醛酸咔唑反应。
Anal Biochem. 1962 Oct;4:330-4. doi: 10.1016/0003-2697(62)90095-7.
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A paper spot test useful in study of Hurler's syndrome.一种对研究黏多糖贮积症Ⅰ型有用的纸片斑点试验。
J Lab Clin Med. 1960 Jan;55:136-8.