Literature DB >> 1064728

Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease.

A H Fensom, P F Benson, S Blunt, S P Brown, T M Coltart.   

Abstract

Using a simple fluorometric assay for alpha-glucosidase activity of cultured amniotic cells, we have monitored two pregnancies from families at risk for Pompe's disease. The fetus was judged to be affected in one, the pregnancy being terminated and unaffected in the other. The accuracy of these predictions was confirmed. These results suggest that this assay allows accurate prenatal diagnosis of Pompe's disease, three weeks after diagnostic amniocentesis.

Entities:  

Keywords:  Amniocentesis; Clinical Research; Congenital Abnormalities; Diseases; Examinations And Diagnoses; Genetic Technics; Laboratory Examinations And Diagnoses; Neonatal Diseases And Abnormalities; Research Methodology

Mesh：

Substances：

Year:  1976        PMID： 1064728      PMCID： PMC1013375          DOI： 10.1136/jmg.13.2.148

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  11 in total

1.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

2.  A method for rapid prenatal diagnosis of glycogenosis II (Pompe's disease).

Authors:  H Galjaard; M Mekes; D E Josselin de Jong JE; M F Niermeijer
Journal:  Clin Chim Acta       Date:  1973-12-27       Impact factor: 3.786

3.  A fluorometric assay of alpha-glucosidase and its application in the study of Pompe's disease.

Authors:  I S Salafsky; H L Nadler
Journal:  J Lab Clin Med       Date:  1973-03

4.  Pompe's disease--detection of maternal heterozygote and antenatal exclusion in the fetus.

Authors:  P F Benson; S Blunt; S P Brown; F W Nash; M Tiller
Journal:  Guys Hosp Rep       Date:  1972

5.  Prenatal diagnosis of type-II glycogenosis.

Authors:  G Hug; W K Schubert; S Soukup
Journal:  Lancet       Date:  1970-05-09       Impact factor: 79.321

6.  [Prenatal diagnosis of glycogenosis type II (Pompe) and subsequent therapeutic abortion (author's transl)].

Authors:  J Schaub; M Osang; D B von Bassewitz; W Grote; R Terinde; I Lombeck; H J Bremer
Journal:  Dtsch Med Wochenschr       Date:  1974-11-01       Impact factor: 0.628

7.  A one-step ultramicro method for the assay of intestinal disaccharidases.

Authors:  M Messer; A Dahlqvist
Journal:  Anal Biochem       Date:  1966-03       Impact factor: 3.365

8.  In-utero detection of type-II glycogenosis (pompe's disease).

Authors:  H L Nadler; A M Messina
Journal:  Lancet       Date:  1969-12-13       Impact factor: 79.321

9.  Prenatal diagnosis of galactosaemia.

Authors:  A H Fensom; P F Benson; S Blunt
Journal:  Br Med J       Date:  1974-11-16

10.  Prenatal diagnosis of type II glycogenosis (Pompe's disease) using microchemical analyses.

Authors:  M F Niermeijer; J F Koster; M Jahodova; J Fernandes; M J Heukels-Dully; H Galjaard
Journal:  Pediatr Res       Date:  1975-05       Impact factor: 3.756
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  3 in total

1.  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

2.  A sensitive semi-automated kinetic assay of alpha-D-glucosidase for the prenatal diagnosis of type 2 glycogenosis (Pompe's disease).

Authors:  K Blau
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

3.  A novel fluorescent assay for T-synthase activity.

Authors:  Tongzhong Ju; Baoyun Xia; Rajindra P Aryal; Wenyi Wang; Yingchun Wang; Xiaokun Ding; Rongjuan Mi; Miao He; Richard D Cummings
Journal:  Glycobiology       Date:  2010-10-19       Impact factor: 4.313
  3 in total

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