Literature DB >> 2407202

Prenatal diagnosis of enzyme defects.

B Winchester1.   

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Year:  1990        PMID： 2407202      PMCID： PMC1590174          DOI： 10.1136/adc.65.1_spec_no.59

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


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  45 in total

1.  Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.

Authors:  R K Saiki; S Scharf; F Faloona; K B Mullis; G T Horn; H A Erlich; N Arnheim
Journal:  Science       Date:  1985-12-20       Impact factor: 47.728

2.  Possible prenatal diagnosis of type III glycogenosis.

Authors:  I Maire; M Mathieu
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

3.  First-trimester (chorion biopsy) diagnosis of citrullinaemia and methylmalonicaciduria.

Authors:  W J Kleijer; R Thoomes; H Galjaard; U Wendel; B Fowler
Journal:  Lancet       Date:  1984-12-08       Impact factor: 79.321

4.  Why confine chorionic villus (placental) biopsy to the first trimester?

Authors:  K H Nicolaides; P W Soothill; C H Rodeck; R C Warren; C M Gosden
Journal:  Lancet       Date:  1986-03-08       Impact factor: 79.321

5.  New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

Authors:  R L Nussbaum; B A Boggs; A L Beaudet; S Doyle; J L Potter; W E O'Brien
Journal:  Am J Hum Genet       Date:  1986-02       Impact factor: 11.025

6.  First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination.

Authors:  E Mornet; J Boue; M Raux-Demay; P Couillin; J F Oury; Y Dumez; J Dausset; D Cohen; A Boué
Journal:  Hum Genet       Date:  1986-08       Impact factor: 4.132

7.  Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria.

Authors:  S P Daiger; A S Lidsky; R Chakraborty; R Koch; F Güttler; S L Woo
Journal:  Lancet       Date:  1986-02-01       Impact factor: 79.321

8.  Prenatal diagnosis of the organic acidurias.

Authors:  L Sweetman
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

9.  Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid.

Authors:  C Jakobs; L Sweetman; S K Wadman; M Duran; J M Saudubray; W L Nyhan
Journal:  Eur J Pediatr       Date:  1984-01       Impact factor: 3.183

10.  Prenatal diagnosis of GM2 gangliosidosis with high residual hexosaminidase A activity (variant B1; pseudo AB variant).

Authors:  E Conzelmann; H Nehrkorn; H J Kytzia; K Sandhoff; M Macek; M Lehovský; M Elleder; A Jirásek; J Kobilková
Journal:  Pediatr Res       Date:  1985-11       Impact factor: 3.756
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  3 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

Review 2.  Prenatal diagnosis of inherited metabolic diseases.

Authors:  R Diukman; J D Goldberg
Journal:  West J Med       Date:  1993-09

3.  Gene therapy of Csf2ra deficiency in mouse fetal monocyte precursors restores alveolar macrophage development and function.

Authors:  Fengqi Li; Katarzyna Maria Okreglicka; Federica Piattini; Lea Maria Pohlmeier; Christoph Schneider; Manfred Kopf
Journal:  JCI Insight       Date:  2022-04-08
  3 in total

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