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15 in total

1. 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

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

Authors: I B Sardharwalla; B Fowler; A J Robins; G M Komrower
Journal: Arch Dis Child Date: 1974-07 Impact factor: 3.791

Review 3. Cystathionine β-synthase deficiency: Of mice and men.

Authors: Warren D Kruger
Journal: Mol Genet Metab Date: 2017-05-19 Impact factor: 4.797

4. A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

Authors: V E Shih; J M Fringer; R Mandell; J P Kraus; G T Berry; R A Heidenreich; M S Korson; H L Levy; V Ramesh
Journal: Am J Hum Genet Date: 1995-07 Impact factor: 11.025

5. 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

6. Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.

Authors: V E Shih; E L Berson; R Mandell; S Y Schmidt
Journal: Am J Hum Genet Date: 1978-03 Impact factor: 11.025

7. Affinity of cystathionine beta-synthase for pyridoxal 5'-phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria.

Authors: M H Lipson; J Kraus; L E Rosenberg
Journal: J Clin Invest Date: 1980-08 Impact factor: 14.808

8. Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts.

Authors: B Fowler; J Kraus; S Packman; L E Rosenberg
Journal: J Clin Invest Date: 1978-03 Impact factor: 14.808

9. On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine beta-synthase from cultured fibroblasts.

Authors: Y J Kim; L E Rosenberg
Journal: Proc Natl Acad Sci U S A Date: 1974-12 Impact factor: 11.205

10. A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes.

Authors: W D Kruger; D R Cox
Journal: Proc Natl Acad Sci U S A Date: 1994-07-05 Impact factor: 11.205