225 related articles for article (PubMed ID: 33985475)
21. Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Hu FL; Gu Z; Kozich V; Kraus JP; Ramesh V; Shih VE
Hum Mol Genet; 1993 Nov; 2(11):1857-60. PubMed ID: 7506602
[TBL] [Abstract][Full Text] [Related]
22. Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
Dawson PA; Cochran DA; Emmerson BT; Kraus JP; Dudman NP; Gordon RB
Aust N Z J Med; 1996 Apr; 26(2):180-5. PubMed ID: 8744616
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. [Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase].
Lefaucheur R; Triquenot-Bagan A; Quillard M; Genevois O; Hannequin D
Rev Neurol (Paris); 2008; 164(8-9):728-32. PubMed ID: 18805305
[TBL] [Abstract][Full Text] [Related]
25. CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Poloni S; Sperb-Ludwig F; Borsatto T; Weber Hoss G; Doriqui MJR; Embiruçu EK; Boa-Sorte N; Marques C; Kim CA; Fischinger Moura de Souza C; Rocha H; Ribeiro M; Steiner CE; Moreno CA; Bernardi P; Valadares E; Artigalas O; Carvalho G; Wanderley HYC; Kugele J; Walter M; Gallego-Villar L; Blom HJ; Schwartz IVD
Mol Genet Genomic Med; 2018 Mar; 6(2):160-170. PubMed ID: 29352562
[TBL] [Abstract][Full Text] [Related]
26. The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
Mudd SH; Skovby F; Levy HL; Pettigrew KD; Wilcken B; Pyeritz RE; Andria G; Boers GH; Bromberg IL; Cerone R
Am J Hum Genet; 1985 Jan; 37(1):1-31. PubMed ID: 3872065
[TBL] [Abstract][Full Text] [Related]
27. Acute psychosis in an adolescent with undiagnosed homocystinuria.
Colafrancesco G; Di Marzio GM; Abbracciavento G; Stoppioni V; Leuzzi V; Ferrara M
Eur J Pediatr; 2015 Sep; 174(9):1263-6. PubMed ID: 25939413
[TBL] [Abstract][Full Text] [Related]
28. Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.
Wasim M; Khan HN; Ayesha H; Iqbal M; Tawab A; Irfan M; Kanhai W; Goorden SMI; Stroomer L; Salomons G; Vaz FM; Karnebeek CDMV; Awan FR
J Pediatr Endocrinol Metab; 2022 Mar; 35(3):325-332. PubMed ID: 34905667
[TBL] [Abstract][Full Text] [Related]
29. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
de Franchis R; Kozich V; McInnes RR; Kraus JP
Hum Mol Genet; 1994 Jul; 3(7):1103-8. PubMed ID: 7981678
[TBL] [Abstract][Full Text] [Related]
30. Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.
Levy HL; Vargas JE; Waisbren SE; Kurczynski TW; Roeder ER; Schwartz RS; Rosengren S; Prasad C; Greenberg CR; Gilfix BM; MacGregor D; Shih VE; Bao L; Kraus JP
J Inherit Metab Dis; 2002 Aug; 25(4):299-314. PubMed ID: 12227460
[TBL] [Abstract][Full Text] [Related]
31. Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.
Alcaide P; Krijt J; Ruiz-Sala P; Ješina P; Ugarte M; Kožich V; Merinero B
Clin Chim Acta; 2015 Jan; 438():261-5. PubMed ID: 25218699
[TBL] [Abstract][Full Text] [Related]
32. Homocystinuria in a Family with Novel Cystathionine Beta Synthase Gene Mutations.
Yi C; He J; Xu J; Zhang X; Huang J
Clin Lab; 2021 Feb; 67(2):. PubMed ID: 33616328
[TBL] [Abstract][Full Text] [Related]
33. Diagnosis of cystathionine beta-synthase deficiency by genetic analysis.
Suri F; Narooie-Nejad M; Safari I; Moazzeni H; Rohani MR; Khajeh A; Klotzle B; Fan JB; Elahi E
J Neurol Sci; 2014 Dec; 347(1-2):305-9. PubMed ID: 25455305
[TBL] [Abstract][Full Text] [Related]
34. Analysis of the Qatari R336C cystathionine β-synthase protein in mice.
Gupta S; Gallego-Villar L; Wang L; Lee HO; Nasrallah G; Al-Dewik N; Häberle J; Thöny B; Blom HJ; Ben-Omran T; Kruger WD
J Inherit Metab Dis; 2019 Sep; 42(5):831-838. PubMed ID: 31240737
[TBL] [Abstract][Full Text] [Related]
35. Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase (
Gupta S; Kelow S; Wang L; Andrake MD; Dunbrack RL; Kruger WD
J Biol Chem; 2018 Sep; 293(36):13921-13931. PubMed ID: 30030379
[TBL] [Abstract][Full Text] [Related]
36. Cystathionine β-synthase deficiency: Of mice and men.
Kruger WD
Mol Genet Metab; 2017 Jul; 121(3):199-205. PubMed ID: 28583326
[TBL] [Abstract][Full Text] [Related]
37. Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.
Averdunk L; Thimm E; Klee D; Haack TB; Distelmaier F
J Inherit Metab Dis; 2023 Nov; 46(6):1206-1208. PubMed ID: 37718464
[TBL] [Abstract][Full Text] [Related]
38. CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.
Kwok JS; Fung SL; Lui GC; Law EL; Chan MH; Leung CB; Tang NL
Pathology; 2011 Jan; 43(1):81-3. PubMed ID: 21240075
[No Abstract] [Full Text] [Related]
39. Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years.
Walter JH; Wraith JE; White FJ; Bridge C; Till J
Eur J Pediatr; 1998 Apr; 157 Suppl 2():S71-6. PubMed ID: 9587030
[TBL] [Abstract][Full Text] [Related]
40. Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
Janosík M; Oliveriusová J; Janosíková B; Sokolová J; Kraus E; Kraus JP; Kozich V
Am J Hum Genet; 2001 Jun; 68(6):1506-13. PubMed ID: 11359213
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
