Literature DB >> 4851308

Detection of heterozygotes for homocystinuria. Study of sulphur-containing amino acids in plasma and urine after L-methionine loading.

I B Sardharwalla, B Fowler, A J Robins, G M Komrower.   

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Year:  1974        PMID： 4851308      PMCID： PMC1648915          DOI： 10.1136/adc.49.7.553

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


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  12 in total

1.  Ion exchange chromatography of amino acids--microdetermination of free amino acids in serum.

Authors:  P B HAMILTON
Journal:  Ann N Y Acad Sci       Date:  1962-10-31       Impact factor: 5.691

2.  A modified procedure for the automatic analysis of amino acids.

Authors:  K A PIEZ; L MORRIS
Journal:  Anal Biochem       Date:  1960-11       Impact factor: 3.365

3.  Chromatographic determination of cystine as cysteic acid.

Authors:  E SCHRAM; S MOORE; E J BIGWOOD
Journal:  Biochem J       Date:  1954-05       Impact factor: 3.857

4.  Homocystinuria: studies in tissue culture.

Authors:  B W Uhlendorf; E B Conerly; S H Mudd
Journal:  Pediatr Res       Date:  1973-07       Impact factor: 3.756

5.  Methods for the quantitative analysis of sulphur-containing compounds in physiological fluids.

Authors:  B Fowler; A J Robins
Journal:  J Chromatogr       Date:  1972-10-05

6.  Homocystinuria.

Authors:  H H White; H L Thompson; L P Rowland; D Cowen; S Araki
Journal:  Trans Am Neurol Assoc       Date:  1964

7.  Homocystinuria: a report in two siblings.

Authors:  C Kennedy; V E Shih; L P Rowland
Journal:  Pediatrics       Date:  1965-11       Impact factor: 7.124

8.  Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis.

Authors:  H G Dunn; T L Perry; C L Dolman
Journal:  Neurology       Date:  1966-04       Impact factor: 9.910

9.  Treatment of homocystinuria.

Authors:  H P Chase; S I Goodman; D O'Brien
Journal:  Arch Dis Child       Date:  1967-10       Impact factor: 3.791

10.  Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine.

Authors:  L Laster; S H Mudd; J D Finkelstein; F Irreverre
Journal:  J Clin Invest       Date:  1965-10       Impact factor: 14.808
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  15 in total

1.  Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration.

Authors:  Simon G Lamarre; Anne M Molloy; Stacey N Reinke; Brian D Sykes; Margaret E Brosnan; John T Brosnan
Journal:  Am J Physiol Endocrinol Metab       Date:  2011-09-20       Impact factor: 4.310

2.  The pathogenesis of coronary artery disease. A possible role for methionine metabolism.

Authors:  D E Wilcken; B Wilcken
Journal:  J Clin Invest       Date:  1976-04       Impact factor: 14.808

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.  Protein-bound homocyst(e)ine. A possible risk factor for coronary artery disease.

Authors:  S S Kang; P W Wong; H Y Cook; M Norusis; J V Messer
Journal:  J Clin Invest       Date:  1986-05       Impact factor: 14.808

5.  Are dietary choline and betaine intakes determinants of total homocysteine concentration?

Authors:  Jung Eun Lee; Paul F Jacques; Lauren Dougherty; Jacob Selhub; Edward Giovannucci; Steven H Zeisel; Eunyoung Cho
Journal:  Am J Clin Nutr       Date:  2010-03-10       Impact factor: 7.045

Review 6.  The case for mild hyperhomocysteinaemia as a risk factor.

Authors:  G H Boers
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

7.  Acute hyperhomocysteinaemia affects pulse pressure but not microvascular vasodilator function.

Authors:  K R Davis; H Pearson; S Moat; J R Bonham; R Donnelly
Journal:  Br J Clin Pharmacol       Date:  2001-09       Impact factor: 4.335

8.  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

9.  Unique efficiency of methionine metabolism in premenopausal women may protect against vascular disease in the reproductive years.

Authors:  G H Boers; A G Smals; F J Trijbels; A I Leermakers; P W Kloppenborg
Journal:  J Clin Invest       Date:  1983-12       Impact factor: 14.808

10.  A study of cardiovascular risk in heterozygotes for homocystinuria.

Authors:  S H Mudd; R Havlik; H L Levy; V A McKusick; M Feinleib
Journal:  Am J Hum Genet       Date:  1981-11       Impact factor: 11.025
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