Literature DB >> 4787736

Cystathionine synthase deficiency: heterozygote detection using cultured skin fibroblasts.

L D Fleisher, H H Tallan, N G Beratis, K Hirschhorn, G E Gaull.   

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Year:  1973        PMID： 4787736     DOI： 10.1016/s0006-291x(73)80056-7

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  7 in total

1.  Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome).

Authors:  J M Delabar; P M Sinet; B Chadefaux; A Nicole; A Gegonne; D Stehelin; F Fridlansky; N Créau-Goldberg; C Turleau; J de Grouchy
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

Review 2.  The salience of Garrod's 'molecular groupings' and 'Inborn Factors in Disease'.

Authors:  C R Scriver
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  Protein-bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine-synthase deficiency.

Authors:  R Sartorio; R Carrozzo; L Corbo; G Andria
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

4.  Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.

Authors:  G H Boers; B Fowler; A G Smals; F J Trijbels; A I Leermakers; W J Kleijer; P W Kloppenborg
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes.

Authors:  C R Scriver; C L Clow; P Kaplan; A Niederwieser
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132

6.  Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.

Authors:  G Di Minno; G Davì; M Margaglione; F Cirillo; E Grandone; G Ciabattoni; I Catalano; P Strisciuglio; G Andria; C Patrono
Journal:  J Clin Invest       Date:  1993-09       Impact factor: 14.808

7.  Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts.

Authors:  A H Bittles; N A Carson
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982
  7 in total

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