Literature DB >> 2025044

Prenatal diagnosis of enzyme defects--an update.

B Winchester1, E Young.   

Abstract

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Year:  1991        PMID： 2025044      PMCID： PMC1590311          DOI： 10.1136/adc.66.4_spec_no.451

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  38 in total

1.  Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid beta-oxidation.

Authors:  R J Wanders; L IJlst; A H van Gennip; C Jakobs; J P de Jager; L Dorland; F J van Sprang; M Duran
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 2.  Molecular basis and population genetics of phenylketonuria.

Authors:  S L Woo
Journal:  Biochemistry       Date:  1989-01-10       Impact factor: 3.162

3.  Prenatal diagnosis of propionic acidemia: amniocentesis at the 11th week of pregnancy.

Authors:  B Chadefaux; D Rabier; J P Bonnefont; C Jakobs; Y Dumez; P Kamoun
Journal:  Prenat Diagn       Date:  1989-06       Impact factor: 3.050

4.  Purification of GTP cyclohydrolase I from human liver and production of specific monoclonal antibodies.

Authors:  G Schoedon; U Redweik; H C Curtius
Journal:  Eur J Biochem       Date:  1989-01-02

5.  A noninvasive method for determination of the sex and karyotype of the fetus from the maternal blood.

Authors:  A Selypes; R Lorencz
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

Review 6.  Prospects for prenatal diagnosis during preimplantation human development.

Authors:  R Penketh; A McLaren
Journal:  Baillieres Clin Obstet Gynaecol       Date:  1987-09

7.  Fetal cells in the blood of pregnant women: detection and enrichment by fluorescence-activated cell sorting.

Authors:  L A Herzenberg; D W Bianchi; J Schröder; H M Cann; G M Iverson
Journal:  Proc Natl Acad Sci U S A       Date:  1979-03       Impact factor: 11.205

8.  Preimplantation diagnosis of deficiency of hypoxanthine phosphoribosyl transferase in a mouse model for Lesch-Nyhan syndrome.

Authors:  M Monk; A Handyside; K Hardy; D Whittingham
Journal:  Lancet       Date:  1987-08-22       Impact factor: 79.321

9.  Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.

Authors:  R Chakraborty; A S Lidsky; S P Daiger; F Güttler; S Sullivan; A G Dilella; S L Woo
Journal:  Hum Genet       Date:  1987-05       Impact factor: 4.132

10.  The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.

Authors:  G G Rhoads; L G Jackson; S E Schlesselman; F F de la Cruz; R J Desnick; M S Golbus; D H Ledbetter; H A Lubs; M J Mahoney; E Pergament
Journal:  N Engl J Med       Date:  1989-03-09       Impact factor: 91.245
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