411 related articles for article (PubMed ID: 9156316)
21. Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online.
Gordon RB; Cox AJ; Dawson PA; Emmerson BT; Kraus JP; Dudman NP
Hum Mutat; 1998; 11(4):332. PubMed ID: 10215408
[TBL] [Abstract][Full Text] [Related]
22. [A case report of pyridoxine-responsive homocystinuria].
Milosević-Tosić M; Borota J; Katanić D; Vlaski J
Med Pregl; 1999; 52(11-12):501-4. PubMed ID: 10748775
[TBL] [Abstract][Full Text] [Related]
23. The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis.
Franco R; Maffei F; Lourenço D; Piccinato C; Morelli V; Thomazini I; Zago M
Haematologica; 1998 Nov; 83(11):1006-8. PubMed ID: 9864922
[TBL] [Abstract][Full Text] [Related]
24. Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
Kim CE; Gallagher PM; Guttormsen AB; Refsum H; Ueland PM; Ose L; Folling I; Whitehead AS; Tsai MY; Kruger WD
Hum Mol Genet; 1997 Dec; 6(13):2213-21. PubMed ID: 9361025
[TBL] [Abstract][Full Text] [Related]
25. The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.
Linnebank M; Janosik M; Kozich V; Pronicka E; Kubalska J; Sokolova J; Linnebank A; Schmidt E; Leyendecker C; Klockgether T; Kraus JP; Koch HG
Hum Mutat; 2004 Oct; 24(4):352-3. PubMed ID: 15365998
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria.
Park ES; Oh HJ; Kruger WD; Jung SC; Lee JS
Exp Mol Med; 2006 Dec; 38(6):652-61. PubMed ID: 17202841
[TBL] [Abstract][Full Text] [Related]
28. Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.
Chen X; Wang L; Fazlieva R; Kruger WD
Hum Mutat; 2006 May; 27(5):474-82. PubMed ID: 16619244
[TBL] [Abstract][Full Text] [Related]
29. [Disruption of amino acid metabolism in astrocyte and neurological disorders--possible implication of abnormal glia-neuron network in homocystineuria].
Enokido Y
Brain Nerve; 2007 Jul; 59(7):731-7. PubMed ID: 17663144
[TBL] [Abstract][Full Text] [Related]
30. 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]
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. Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Cozar M; Urreizti R; Vilarinho L; Grosso C; Dodelson de Kremer R; Asteggiano CG; Dalmau J; García AM; Vilaseca MA; Grinberg D; Balcells S
Hum Mutat; 2011 Jul; 32(7):835-42. PubMed ID: 21520339
[TBL] [Abstract][Full Text] [Related]
33. Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.
Tröndle U; Sunder-Plassmann G; Burgmann H; Buchmayer H; Kramer L; Bieglmayer C; Hörl WH; Födinger M
Acta Med Austriaca; 2001; 28(5):145-51. PubMed ID: 11774777
[TBL] [Abstract][Full Text] [Related]
34. Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins.
Casique L; Kabil O; Banerjee R; Martinez JC; De Lucca M
Gene; 2013 Nov; 531(1):117-24. PubMed ID: 23981774
[TBL] [Abstract][Full Text] [Related]
35. The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.
Kluijtmans LA; Boers GH; Kraus JP; van den Heuvel LP; Cruysberg JR; Trijbels FJ; Blom HJ
Am J Hum Genet; 1999 Jul; 65(1):59-67. PubMed ID: 10364517
[TBL] [Abstract][Full Text] [Related]
36. Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency?
Elsaid MF; Bener A; Lindner M; Alzyoud M; Shahbek N; Abdelrahman MO; Abdoh G; Bessisso MS; Zschocke J; Hoffmann GF
Mol Genet Metab; 2007; 92(1-2):100-3. PubMed ID: 17686644
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. 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]
39. Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.
Kraus JP; Le K; Swaroop M; Ohura T; Tahara T; Rosenberg LE; Roper MD; Kozich V
Hum Mol Genet; 1993 Oct; 2(10):1633-8. PubMed ID: 7903580
[TBL] [Abstract][Full Text] [Related]
40. [Homocystinuria--biochemical, clinical and genetic aspects].
Borota J; Milosević-Tosić M; Katanić D
Med Pregl; 1997; 50(5-6):187-93. PubMed ID: 9297049
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
