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1
Detection of hunter heterozygotes by enzymatic analysis of hair roots.
Am J Hum Genet. 1979 Jan;31(1):42-9.
2
Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.
Am J Hum Genet. 1978 Nov;30(6):575-82.
3
An improved assay for iduronate 2-sulphate sulphatase in serum and its use in the detection of carriers of the Hunter syndrome.
Clin Chim Acta. 1981 Apr 27;112(1):107-12. doi: 10.1016/0009-8981(81)90274-6.
4
Iduronate sulfatase determination for the diagnosis of the Hunter syndrome and the detection of the carrier state.
Adv Exp Med Biol. 1976;68:253-60. doi: 10.1007/978-1-4684-7735-1_17.
5
Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome.
Pediatr Res. 1976 Aug;10(8):733-6. doi: 10.1203/00006450-197608000-00007.
6
Iduronate sulfatase in amniotic fluid: an aid in the prenatal diagnosis of the hunter syndrome.
J Pediatr. 1977 Mar;90(3):423-5. doi: 10.1016/s0022-3476(77)80707-5.
7
Hunter syndrome: prenatal diagnosis in maternal serum.
Am J Hum Genet. 1986 Feb;38(2):253-60.
8
X-linked Hunter syndrome: the heterozygous phenotype in cell culture.
Am J Hum Genet. 1977 Sep;29(5):448-54.
9
Heterozygote detection in Hunter syndrome.
Am J Med Genet. 1984 Mar;17(3):661-5. doi: 10.1002/ajmg.1320170317.
10
Carrier detection in Hunter syndrome.
Am J Med Genet. 1983 Sep;16(1):61-9. doi: 10.1002/ajmg.1320160111.
引用本文的文献
1
Clinical and biochemical studies in mucopolysaccharidosis type II carriers.
J Inherit Metab Dis. 2009 Dec;32(6):732-738. doi: 10.1007/s10545-009-1275-9. Epub 2009 Oct 10.
2
Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.
J Med Genet. 1998 Aug;35(8):646-9. doi: 10.1136/jmg.35.8.646.
3
Biochemical diagnosis of mucopolysaccharidoses: experience of 297 diagnoses in a 15-year period (1977-1991).
J Inherit Metab Dis. 1993;16(2):473-83. doi: 10.1007/BF00710300.
4
High-resolution protein mapping of human fibroblasts and hair root cells: a standardized reproducible procedure considering the effect of cell culture parameters.
Biochem Genet. 1981 Oct;19(9-10):871-80. doi: 10.1007/BF00504252.
5
A radioenzymatic assay of catechol-O-methyltransferase in hair root cells: comparison with erythrocyte activity.
Hum Genet. 1981;57(2):169-71. doi: 10.1007/BF00282015.
6
A clinical and genetic study of Hunter's syndrome. 1. Heterogeneity.
J Med Genet. 1982 Dec;19(6):401-7. doi: 10.1136/jmg.19.6.401.
7
The mucopolysaccharidoses: biochemistry and clinical symptoms.
Klin Wochenschr. 1981 Aug 17;59(16):867-76. doi: 10.1007/BF01721920.
8
Reliability of the Tønnesen technique for the identification of Hunter carriers.
Hum Genet. 1983;64(4):404-6. doi: 10.1007/BF00292377.
9
Reliability of the use of fructose 1-phosphate to detect Hunter cells in fibroblast-cultures of obligate carriers of the Hunter syndrome.
Hum Genet. 1983;64(4):371-5. doi: 10.1007/BF00292369.
10
Diagnosis of Hunter's syndrome carriers; radioactive sulphate incorporation into fibroblasts in the presence or fructose 1-phosphate.
Hum Genet. 1982;60(2):167-71. doi: 10.1007/BF00569706.
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Sex chromatin and gene action in the mammalian X-chromosome.
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Glucose-6-phosphate dehydrogenase mosaicism: ito;ozatopm om tje study of hair follicle variegation.
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Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles.
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Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells.
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Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis.
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Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates.
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Detection of the heterozygote in Lesch-Nyhan disease by hair-root analysis.
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Demonstration of the heterozygous state in Hunter's syndrome.
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The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.
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A probable sex difference in some mutation rates.
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