142 related articles for article (PubMed ID: 7081217)
1. Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency.
Skovby F; Kraus J; Redlich C; Rosenberg LE
Am J Hum Genet; 1982 Jan; 34(1):73-83. PubMed ID: 7081217
[TBL] [Abstract][Full Text] [Related]
2. Improved identification of heterozygotes for homocystinuria due to cystathionine synthase deficiency by the combination of methionine loading and enzyme determination in cultured fibroblasts.
Boers GH; Fowler B; Smals AG; Trijbels FJ; Leermakers AI; Kleijer WJ; Kloppenborg PW
Hum Genet; 1985; 69(2):164-9. PubMed ID: 3972418
[TBL] [Abstract][Full Text] [Related]
3. Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA.
Skovby F; Kraus JP; Rosenberg LE
Am J Hum Genet; 1984 Mar; 36(2):452-9. PubMed ID: 6711564
[TBL] [Abstract][Full Text] [Related]
4. The molecular defect in a case of (cystathionine beta-synthase)-deficient homocystinuria.
Griffiths R; Tudball N
Eur J Biochem; 1977 Apr; 74(2):269-73. PubMed ID: 404147
[TBL] [Abstract][Full Text] [Related]
5. Homocystinuria due to a cystathionine beta-synthase deficiency: clinical manifestations and therapy.
Valle D; Pai GG; Thomas GH; Pyeritz RE
Johns Hopkins Med J; 1980 Mar; 146(3):110-7. PubMed ID: 7359798
[No Abstract] [Full Text] [Related]
6. Prenatal exclusion of homocystinuria (cystathionine beta-synthase deficiency) by assay of phytohaemagglutinin-stimulated fetal lymphocytes.
Fensom AH; Benson PF; Crees MJ; Ellis M; Rodeck CH; Vaughan RW
Prenat Diagn; 1983; 3(2):127-30. PubMed ID: 6622391
[TBL] [Abstract][Full Text] [Related]
7. Platelet survival and morphology in homocystinuria due to cystathionine synthase deficiency.
Uhlemann ER; TenPas JH; Lucky AW; Schulman JD; Mudd SH; Shulman NR
N Engl J Med; 1976 Dec; 295(23):1283-6. PubMed ID: 980060
[TBL] [Abstract][Full Text] [Related]
8. Studies on the use of skin fibroblasts for the measurement of cystathionine synthase activity with respect to homocystinuria.
Griffiths R; Tudball N
Clin Chim Acta; 1976 Nov; 73(1):157-62. PubMed ID: 1000825
[TBL] [Abstract][Full Text] [Related]
9. Cystathionine beta-synthase deficiency: a qualitative abnormality of the deficient enzyme modified by vitamin B6 therapy.
Longhi RC; Fleisher LD; Tallan HH; Gaull GE
Pediatr Res; 1977 Feb; 11(2):100-3. PubMed ID: 840498
[TBL] [Abstract][Full Text] [Related]
10. Increased plasma copper in patients with homocystinuria due to cystathionine beta-synthase deficiency.
Dudman NP; Wilcken DE
Clin Chim Acta; 1983 Jan; 127(1):105-13. PubMed ID: 6825304
[TBL] [Abstract][Full Text] [Related]
11. Free amino acids in liver of patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B6.
Rassin DK; Longhi RC; Gaull GE
J Pediatr; 1977 Oct; 91(4):574-7. PubMed ID: 908976
[TBL] [Abstract][Full Text] [Related]
12. Cystathionine beta-synthase deficiency: observations on the biochemical lesion in a vitamin B6 non-responsive patient.
Griffiths R
Monogr Hum Genet; 1978; 9():135-9. PubMed ID: 732830
[No Abstract] [Full Text] [Related]
13. Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts.
Fowler B; Kraus J; Packman S; Rosenberg LE
J Clin Invest; 1978 Mar; 61(3):645-53. PubMed ID: 641146
[TBL] [Abstract][Full Text] [Related]
14. Postoperative thromboemboli in cystathionine beta-synthase deficiency.
Jackson GM; Grisolia JS; Wolf PL; Jones OW; Bloor CM
Am Heart J; 1984 Sep; 108(3 Pt 1):627-8. PubMed ID: 6475731
[No Abstract] [Full Text] [Related]
15. Electroencephalographic abnormalities in homocystinuria due to cystathionine synthase deficiency.
Del Giudice E; Striano S; Andria G
Clin Neurol Neurosurg; 1983; 85(3):165-8. PubMed ID: 6315290
[TBL] [Abstract][Full Text] [Related]
16. Urinary homocystine levels in a newborn infant with cystathionine synthase deficiency.
Watanabe T; Kuroda Y; Naito E; Ito M; Takeda E; Toshima K; Miyao M; Tomita T; Furukawa S
Eur J Pediatr; 1987 Jul; 146(4):436-8. PubMed ID: 3653141
[TBL] [Abstract][Full Text] [Related]
17. Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts.
Bittles AH; Carson NA
J Inherit Metab Dis; 1981; 4(1):3-6. PubMed ID: 6785521
[TBL] [Abstract][Full Text] [Related]
18. Homocysteine and cysteine loads in patients with homocystinuria due to cystathionine synthase deficiency: effects of vitamin B-6.
Rassin DK; Longhi RC; Sternowsky HJ; Sturman JA; Gaull GE
Clin Chim Acta; 1977 Aug; 79(1):197-210. PubMed ID: 890952
[TBL] [Abstract][Full Text] [Related]
19. Recent advances in the mechanism of pyridoxine-responsive disorders.
Fowler B
J Inherit Metab Dis; 1985; 8 Suppl 1():76-83. PubMed ID: 3930845
[TBL] [Abstract][Full Text] [Related]
20. Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients.
Wilcken DE; Dudman NP; Tyrrell PA
Metabolism; 1985 Dec; 34(12):1115-21. PubMed ID: 3934499
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]