These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
134 related articles for article (PubMed ID: 22353391)
21. A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. Skovby F; Gaustadnes M; Mudd SH Mol Genet Metab; 2010 Jan; 99(1):1-3. PubMed ID: 19819175 [TBL] [Abstract][Full Text] [Related]
22. High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients. Gallagher PM; Ward P; Tan S; Naughten E; Kraus JP; Sellar GC; McConnell DJ; Graham I; Whitehead AS Hum Mutat; 1995; 6(2):177-80. PubMed ID: 7581402 [No Abstract] [Full Text] [Related]
23. Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. de Franchis R; Kraus E; Kozich V; Sebastio G; Kraus JP Hum Mutat; 1999; 13(6):453-7. PubMed ID: 10408774 [TBL] [Abstract][Full Text] [Related]
24. Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene. Janosík M; Sokolová J; Janosíková B; Krijt J; Klatovská V; Kozich V J Pediatr; 2009 Mar; 154(3):431-7. PubMed ID: 18950795 [TBL] [Abstract][Full Text] [Related]
25. Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family. Gong B; Liu L; Li Z; Ye Z; Xiao Y; Zeng G; Shi Y; Wang Y; Feng X; Li X; Hao F; Liu X; Qu C; Li Y; Mu G; Yang Z Sci Rep; 2015 Dec; 5():17947. PubMed ID: 26667307 [TBL] [Abstract][Full Text] [Related]
26. Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. Kluijtmans LA; Boers GH; Stevens EM; Renier WO; Kraus JP; Trijbels FJ; van den Heuvel LP; Blom HJ J Clin Invest; 1996 Jul; 98(2):285-9. PubMed ID: 8755636 [TBL] [Abstract][Full Text] [Related]
27. Reduction of false negative results in screening of newborns for homocystinuria. Peterschmitt MJ; Simmons JR; Levy HL N Engl J Med; 1999 Nov; 341(21):1572-6. PubMed ID: 10564686 [TBL] [Abstract][Full Text] [Related]
28. Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population. Al-Dewik N; Ali A; Mahmoud Y; Shahbeck N; Ali R; Mahmoud L; Al-Mureikhi M; Al-Mesaifri F; Musa S; El-Akouri K; Almulla M; Al Saadi R; Nasrallah GK; Samara M; Abdoh G; Rifai HA; Häberle J; Thöny B; Kruger W; Blom HJ; Ben-Omran T J Inherit Metab Dis; 2019 Sep; 42(5):818-830. PubMed ID: 30968424 [TBL] [Abstract][Full Text] [Related]
29. A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria. Sirachainan N; Wattanasirichaigoon D; Suwannarat P; Sasanakul W; Chuansumrit A J Pediatr Hematol Oncol; 2009 Oct; 31(10):768-70. PubMed ID: 20051935 [TBL] [Abstract][Full Text] [Related]
30. Spectrum of hypermethioninemia in neonatal screening. Chien YH; Chiang SC; Huang A; Hwu WL Early Hum Dev; 2005 Jun; 81(6):529-33. PubMed ID: 15935930 [TBL] [Abstract][Full Text] [Related]
31. Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria. Zaidi SH; Faiyaz-Ul-Haque M; Shuaib T; Balobaid A; Rahbeeni Z; Abalkhail H; Al-Abdullatif A; Al-Hassnan Z; Peltekova I; Al-Owain M Clin Genet; 2012 Jun; 81(6):563-70. PubMed ID: 21517828 [TBL] [Abstract][Full Text] [Related]
32. Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China. Han B; Cao Z; Tian L; Zou H; Yang L; Zhu W; Liu Y Brain Dev; 2016 May; 38(5):491-7. PubMed ID: 26563984 [TBL] [Abstract][Full Text] [Related]
33. Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis. Gat-Yablonski G; Mandel H; Fowler B; Taleb O; Sela BA Hum Mutat; 2000 Oct; 16(4):372. PubMed ID: 11013450 [TBL] [Abstract][Full Text] [Related]
34. The Spectrum of Mutations of Homocystinuria in the MENA Region. Al-Sadeq DW; Nasrallah GK Genes (Basel); 2020 Mar; 11(3):. PubMed ID: 32245022 [TBL] [Abstract][Full Text] [Related]
35. Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6. De Lucca M; Casique L Mol Genet Metab; 2004 Mar; 81(3):209-15. PubMed ID: 14972327 [TBL] [Abstract][Full Text] [Related]
36. A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis. Sarov M; Not A; de Baulny HO; Masnou P; Vahedi K; Bousser MG; Denier C J Neurol Sci; 2014 Jan; 336(1-2):257-9. PubMed ID: 24169224 [TBL] [Abstract][Full Text] [Related]
37. Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. Yap S; Naughten E J Inherit Metab Dis; 1998 Oct; 21(7):738-47. PubMed ID: 9819703 [TBL] [Abstract][Full Text] [Related]
38. Molecular analysis of homocystinuria in Brazilian patients. Porto MP; Galdieri LC; Pereira VG; Vergani N; da Rocha JC; Micheletti C; Martins AM; Perez AB; Almeida VD Clin Chim Acta; 2005 Dec; 362(1-2):71-8. PubMed ID: 15993874 [TBL] [Abstract][Full Text] [Related]
39. Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99. Kozich V; Janosík M; Sokolová J; Oliveriusová J; Orendác M; Kraus JP; Elleder D J Inherit Metab Dis; 1997 Jul; 20(3):363-6. PubMed ID: 9266356 [No Abstract] [Full Text] [Related]
40. Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. Gallagher PM; Naughten E; Hanson NQ; Schwichtenberg K; Bignell M; Yuan M; Ward P; Yap S; Whitehead AS; Tsai MY Mol Genet Metab; 1998 Dec; 65(4):298-302. PubMed ID: 9889017 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]