Literature DB >> 8236980

Prenatal diagnosis of inherited metabolic diseases.

R Diukman1, J D Goldberg.   

Abstract

Advances in the prenatal diagnosis of inherited metabolic disease have provided new reproductive options to at-risk couples. These advances have occurred in both sampling techniques and methods of analysis. In this review we present an overview of the currently available prenatal diagnostic approaches for the diagnosis of metabolic disease in a fetus.

Entities:  

Mesh：

Year:  1993        PMID： 8236980      PMCID： PMC1011353     

Source DB:  PubMed          Journal:  West J Med        ISSN： 0093-0415


  25 in total

1.  Extraction of DNA from amniotic fluid cells for the early prenatal diagnosis of genetic disease.

Authors:  M T Rebello; G Hackett; J Smith; F E Loeffler; S Robson; N MacLachlan; R W Beard; C H Rodeck; R Williamson; D V Coleman
Journal:  Prenat Diagn       Date:  1991-01       Impact factor: 3.050

Review 2.  Prenatal diagnosis of enzyme defects.

Authors:  B Winchester
Journal:  Arch Dis Child       Date:  1990-01       Impact factor: 3.791

3.  Prenatal diagnosis of mucolipidosis II by early amniocentesis.

Authors:  G T Besley; D M Broadhead; N C Nevin; J Nevin; J C Dornan
Journal:  Lancet       Date:  1990-05-12       Impact factor: 79.321

Review 4.  Obstetric aspects of prenatal diagnostic methods.

Authors:  M J Whittle; D H Gilmore; M B McNay
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

5.  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

6.  Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report.

Authors:  J D Schulman; W Y Fujimoto; K H Bradley; J E Seegmiller
Journal:  J Pediatr       Date:  1970-09       Impact factor: 4.406

7.  Early amniocentesis: experience of 222 consecutive patients, 1987-1988.

Authors:  J Nevin; N C Nevin; J C Dornan; D Sim; M J Armstrong
Journal:  Prenat Diagn       Date:  1990-02       Impact factor: 3.050

8.  Prenatal diagnosis of harlequin ichthyosis.

Authors:  S Elias; M Mazur; R Sabbagha; N B Esterly; J L Simpson
Journal:  Clin Genet       Date:  1980-04       Impact factor: 4.438

9.  Prenatal diagnosis of congenital bullous ichthyosiform erythroderma (epidermolytic hyperkeratosis) by fetal skin biopsy.

Authors:  M S Golbus; R W Sagebiel; R A Filly; T D Gindhart; J G Hall
Journal:  N Engl J Med       Date:  1980-01-10       Impact factor: 91.245

10.  Early amniocentesis and amniotic fluid organic acid levels in the prenatal diagnosis of organic acidemias.

Authors:  M Coude; B Chadefaux; D Rabier; P Kamoun
Journal:  Clin Chim Acta       Date:  1990-03-15       Impact factor: 3.786
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