559 related articles for article (PubMed ID: 27778219)
1. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA; Kožich V; Santra S; Andria G; Ben-Omran TI; Chakrapani AB; Crushell E; Henderson MJ; Hochuli M; Huemer M; Janssen MC; Maillot F; Mayne PD; McNulty J; Morrison TM; Ogier H; O'Sullivan S; Pavlíková M; de Almeida IT; Terry A; Yap S; Blom HJ; Chapman KA
J Inherit Metab Dis; 2017 Jan; 40(1):49-74. PubMed ID: 27778219
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [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]
4. Homocystinuria: pathogenetic mechanisms.
Grieco AJ
Am J Med Sci; 1977; 273(2):120-32. PubMed ID: 324277
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk.
Maclean KN; Jiang H; Greiner LS; Allen RH; Stabler SP
Mol Genet Metab; 2012 Mar; 105(3):395-403. PubMed ID: 22192524
[TBL] [Abstract][Full Text] [Related]
7. Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.
Wilcken DE; Wilcken B; Dudman NP; Tyrrell PA
N Engl J Med; 1983 Aug; 309(8):448-53. PubMed ID: 6877313
[TBL] [Abstract][Full Text] [Related]
8. Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V; Sokolová J; Morris AAM; Pavlíková M; Gleich F; Kölker S; Krijt J; Dionisi-Vici C; Baumgartner MR; Blom HJ; Huemer M;
J Inherit Metab Dis; 2021 May; 44(3):677-692. PubMed ID: 33295057
[TBL] [Abstract][Full Text] [Related]
9. Classical Homocystinuria in a Juvenile Patient.
Fatima S; Hafeez A; Ijaz A; Asif N; Awan A; Sajid A
J Coll Physicians Surg Pak; 2018 Jun; 28(6):488-489. PubMed ID: 29848432
[TBL] [Abstract][Full Text] [Related]
10. Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency.
Tangerman A; Wilcken B; Levy HL; Boers GH; Mudd SH
Metabolism; 2000 Aug; 49(8):1071-7. PubMed ID: 10954028
[TBL] [Abstract][Full Text] [Related]
11. Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine.
Mudd SH; Edwards WA; Loeb PM; Brown MS; Laster L
J Clin Invest; 1970 Sep; 49(9):1762-73. PubMed ID: 5449710
[TBL] [Abstract][Full Text] [Related]
12. Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency.
Sasai H; Shimozawa N; Asano T; Kawamoto N; Yamamoto T; Kimura T; Kawamoto M; Matsui E; Fukao T
Tohoku J Exp Med; 2015 Dec; 237(4):323-7. PubMed ID: 26639091
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Hua N; Ning Y; Zheng H; Zhao L; Qian X; Wormington C; Wang J
BMC Ophthalmol; 2021 May; 21(1):212. PubMed ID: 33985475
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Free and protein-bound homocysteine and cysteine in cystathionine beta-synthase deficiency: interrelations during short- and long-term changes in plasma concentrations.
Wiley VC; Dudman NP; Wilcken DE
Metabolism; 1989 Aug; 38(8):734-9. PubMed ID: 2761410
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Homocystinuria: Therapeutic approach.
Kumar T; Sharma GS; Singh LR
Clin Chim Acta; 2016 Jul; 458():55-62. PubMed ID: 27059523
[TBL] [Abstract][Full Text] [Related]
19. Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.
Bublil EM; Majtan T; Park I; Carrillo RS; Hůlková H; Krijt J; Kožich V; Kraus JP
J Clin Invest; 2016 Jun; 126(6):2372-84. PubMed ID: 27183385
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]