Literature DB >> 2512421

Prenatal diagnosis of inherited metabolic disease by chorionic villus analysis: the Edinburgh experience.

G T Besley1, D M Broadhead.   

Abstract

Mesh:

Year:  1989        PMID: 2512421     DOI: 10.1007/bf03335393

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN: 0141-8955            Impact factor:   4.982


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  8 in total

1.  Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.

Authors:  B Chadefaux; C Augereau; D Rabier; F Rocchiccioli; J Boué; J F Oury; P Kamoun
Journal:  Prenat Diagn       Date:  1988-02       Impact factor: 3.050

2.  First trimester prenatal diagnosis of metabolic diseases: a survey in countries from the European community.

Authors:  L Poenaru
Journal:  Prenat Diagn       Date:  1987-06       Impact factor: 3.050

3.  First trimester diagnosis of Hunter syndrome on chorionic villi.

Authors:  W J Kleijer; O P van Diggelen; H C Janse; H Galjaard; Y Dumez; J Boué
Journal:  Lancet       Date:  1984-08-25       Impact factor: 79.321

4.  GM2-gangliosidosis variant with altered substrate specificity: evidence for alpha-locus genetic compound.

Authors:  G T Besley; D M Broadhead; J A Young
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

5.  First trimester diagnosis of Gaucher disease in a fetus with trisomy 21.

Authors:  G T Besley; M E Ferguson-Smith; C Frew; A Morris; D H Gilmore
Journal:  Prenat Diagn       Date:  1988-07       Impact factor: 3.050

6.  Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases.

Authors:  E S Sachs; M G Jahoda; W J Kleijer; L Pijpers; H Galjaard
Journal:  Am J Med Genet       Date:  1988-02

7.  Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients.

Authors:  M T Vanier; D A Wenger; M E Comly; R Rousson; R O Brady; P G Pentchev
Journal:  Clin Genet       Date:  1988-05       Impact factor: 4.438

8.  Maternal cell contamination in cultured chorionic villi: comparison of chromosome Q-polymorphisms derived from villi, fetal skin, and maternal lymphocytes.

Authors:  J Williams; A L Medearis; W H Chu; G D Kovacs; M M Kaback
Journal:  Prenat Diagn       Date:  1987-06       Impact factor: 3.050

  8 in total
  2 in total

Review 1.  Prenatal diagnosis of enzyme defects--an update.

Authors:  B Winchester; E Young
Journal:  Arch Dis Child       Date:  1991-04       Impact factor: 3.791

2.  Chorionic villus sampling: diagnostic uses and limitations of enzyme assays.

Authors:  B Fowler; L Giles; A Cooper; I B Sardharwalla
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

  2 in total

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