263 related articles for article (PubMed ID: 25218699)
1. 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]
2. Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
Krijt J; Kopecká J; Hnízda A; Moat S; Kluijtmans LA; Mayne P; Kožich V
J Inherit Metab Dis; 2011 Feb; 34(1):49-55. PubMed ID: 20821054
[TBL] [Abstract][Full Text] [Related]
3. High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
Karaca M; Hismi B; Ozgul RK; Karaca S; Yilmaz DY; Coskun T; Sivri HS; Tokatli A; Dursun A
Gene; 2014 Jan; 534(2):197-203. PubMed ID: 24211323
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
Dawson PA; Cox AJ; Emmerson BT; Dudman NP; Kraus JP; Gordon RB
Eur J Hum Genet; 1997; 5(1):15-21. PubMed ID: 9156316
[TBL] [Abstract][Full Text] [Related]
6. High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
Bermúdez M; Frank N; Bernal J; Urreizti R; Briceño I; Merinero B; Perez-Cerdá C; Ugarte M; Grinberg D; Balcells S; Kraus JP
Hum Mutat; 2006 Mar; 27(3):296. PubMed ID: 16470595
[TBL] [Abstract][Full Text] [Related]
7. A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts.
Smith DE; Mendes MI; Kluijtmans LA; Janssen MC; Smulders YM; Blom HJ
J Chromatogr B Analyt Technol Biomed Life Sci; 2012 Dec; 911():186-91. PubMed ID: 23217323
[TBL] [Abstract][Full Text] [Related]
8. Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria.
Bártl J; Chrastina P; Krijt J; Hodík J; Pešková K; Kožich V
Clin Chim Acta; 2014 Nov; 437():211-7. PubMed ID: 25086281
[TBL] [Abstract][Full Text] [Related]
9. Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP; Janosík M; Kozich V; Mandell R; Shih V; Sperandeo MP; Sebastio G; de Franchis R; Andria G; Kluijtmans LA; Blom H; Boers GH; Gordon RB; Kamoun P; Tsai MY; Kruger WD; Koch HG; Ohura T; Gaustadnes M
Hum Mutat; 1999; 13(5):362-75. PubMed ID: 10338090
[TBL] [Abstract][Full Text] [Related]
10. Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.
Guttormsen AB; Ueland PM; Kruger WD; Kim CE; Ose L; Følling I; Refsum H
Am J Med Genet; 2001 May; 100(3):204-13. PubMed ID: 11343305
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Homocysteine contribution to DNA damage in cystathionine β-synthase-deficient patients.
Vanzin CS; Manfredini V; Marinho AE; Biancini GB; Ribas GS; Deon M; Wyse AT; Wajner M; Vargas CR
Gene; 2014 Apr; 539(2):270-4. PubMed ID: 24534463
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.
El-Said MF; Badii R; Bessisso MS; Shahbek N; El-Ali MG; El-Marikhie M; El-Zyoid M; Salem MS; Bener A; Hoffmann GF; Zschocke J
Hum Mutat; 2006 Jul; 27(7):719. PubMed ID: 16786517
[TBL] [Abstract][Full Text] [Related]
16. Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
Urreizti R; Balcells S; Rodés M; Vilarinho L; Baldellou A; Couce ML; Muñoz C; Campistol J; Pintó X; Vilaseca MA; Grinberg D
Hum Mutat; 2003 Jul; 22(1):103. PubMed ID: 12815602
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
Mendes MI; Colaço HG; Smith DE; Ramos RJ; Pop A; van Dooren SJ; Tavares de Almeida I; Kluijtmans LA; Janssen MC; Rivera I; Salomons GS; Leandro P; Blom HJ
J Inherit Metab Dis; 2014 Mar; 37(2):245-54. PubMed ID: 23974653
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]