Literature DB >> 87574

Fluorimetric assay for prenatal detection of Hurler and Scheie homozygotes or heterozygotes.

J L Stirling, D Robinson, A H Fensom, P F Benson, J E Baker.   

Abstract

Mesh：

Substances：

Year:  1978        PMID： 87574     DOI： 10.1016/s0140-6736(78)90441-5

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


× No keyword cloud information.
  15 in total

1.  Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapy.

Authors:  Muhammad Ameer Saif; Brian W Bigger; Karen E Brookes; Jean Mercer; Karen L Tylee; Heather J Church; Denise K Bonney; Simon Jones; J Ed Wraith; Robert F Wynn
Journal:  Haematologica       Date:  2012-02-27       Impact factor: 9.941

2.  Prevalence of different types of lysosomal storage diseases in Saudi Arabia.

Authors:  P T Ozand; G Gascon; A al Aqeel; G Roberts; M Dhalla; S B Subramanyam
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Determination of Biological Variance and Validation of a Fluorometric Assay for Measurement of α-l-Iduronidase Activity in Dried Blood Spots Samples: The First Experience in Iran.

Authors:  Mohammad Abdi; Mohammad Said Hakhamaneshi; Mohammad Reza Alaei; Namam-Ali Azadi; Rahim Vakili; Daniel Zamanfar; Mohammad Taghikhani; Shohreh Khatami
Journal:  Indian J Clin Biochem       Date:  2014-07-30

4.  Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems.

Authors:  P E Polani; E Alberman; B J Alexander; P F Benson; A C Berry; S Blunt; M G Daker; A H Fensom; D M Garrett; V M McGuire; J A Roberts; M J Seller; J D Singer
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

5.  Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow.

Authors:  L J Fairbairn; L S Lashford; E Spooncer; R H McDermott; G Lebens; J E Arrand; J R Arrand; I Bellantuono; R Holt; C E Hatton; A Cooper; G T Besley; J E Wraith; D S Anson; J J Hopwood; T M Dexter
Journal:  Proc Natl Acad Sci U S A       Date:  1996-03-05       Impact factor: 11.205

6.  Comparison of the substrate 4-methylumbelliferyl-alpha-l-iduronide with phenyl-alpha-L-iduronide for the diagnosis of Hurler's disease in cultured cells.

Authors:  J Butterworth; D M Broadhead
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

7.  Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII.

Authors:  A Chabas; M L Giros; A Guardiola
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

8.  Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine.

Authors:  A Cooper; C Hatton; M Thornley; I B Sardharwalla
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

9.  A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.

Authors:  Korrakot Prommajan; Surasawadee Ausavarat; Chalurmpon Srichomthong; Vilavun Puangsricharern; Kanya Suphapeetiporn; Vorasuk Shotelersuk
Journal:  Mol Vis       Date:  2011-02-11       Impact factor: 2.367

10.  Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome.

Authors:  Abhijit Ricky Pal; Eveline J Langereis; Muhammad A Saif; Jean Mercer; Heather J Church; Karen L Tylee; Robert F Wynn; Frits A Wijburg; Simon A Jones; Iain A Bruce; Brian W Bigger
Journal:  Orphanet J Rare Dis       Date:  2015-04-10       Impact factor: 4.123
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.