178 related articles for article (PubMed ID: 30968424)
21. 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]
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 in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao.
Lu YH; Huang YH; Cheng LM; Yu HC; Hsu JH; Wu TJ; Lo MY; Lin A; Lin CY; Wu JY; Niu DM
Mol Genet Metab; 2012 Apr; 105(4):590-5. PubMed ID: 22353391
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. Homocystinuria due to a cystathionine beta-synthase deficiency: clinical manifestations and therapy.
Valle D; Pai GG; Thomas GH; Pyeritz RE
Johns Hopkins Med J; 1980 Mar; 146(3):110-7. PubMed ID: 7359798
[No Abstract] [Full Text] [Related]
27. The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency.
Yap S; Rushe H; Howard PM; Naughten ER
J Inherit Metab Dis; 2001 Aug; 24(4):437-47. PubMed ID: 11596648
[TBL] [Abstract][Full Text] [Related]
28. Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.
Sokolová J; Janosíková B; Terwilliger JD; Freiberger T; Kraus JP; Kozich V
Hum Mutat; 2001 Dec; 18(6):548-9. PubMed ID: 11748855
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five
Khalil A; Khan HN; Wasim M; Ayesha H; Awan FR
Nucleosides Nucleotides Nucleic Acids; 2024; 43(6):517-529. PubMed ID: 37971987
[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. 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]
33. Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison.
Sellos-Moura M; Glavin F; Lapidus D; Evans K; Lew CR; Irwin DE
BMC Health Serv Res; 2020 Mar; 20(1):183. PubMed ID: 32143624
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Birth prevalence of homocystinuria.
Refsum H; Fredriksen A; Meyer K; Ueland PM; Kase BF
J Pediatr; 2004 Jun; 144(6):830-2. PubMed ID: 15192637
[TBL] [Abstract][Full Text] [Related]
36. An orally administered enzyme therapeutic for homocystinuria that suppresses homocysteine by metabolizing methionine in the gastrointestinal tract.
Skvorak K; Mitchell V; Teadt L; Franklin KA; Lee HO; Kruse N; Huitt-Roehl C; Hang J; Du F; Galanie S; Guan S; Aijaz H; Zhang N; Rajkovic G; Kruger WD; Ismaili MHA; Huisman G; McCluskie K; Silverman AP
Mol Genet Metab; 2023 Aug; 139(4):107653. PubMed ID: 37463544
[TBL] [Abstract][Full Text] [Related]
37. Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy.
Yap S; Naughten ER; Wilcken B; Wilcken DE; Boers GH
Semin Thromb Hemost; 2000; 26(3):335-40. PubMed ID: 11011851
[TBL] [Abstract][Full Text] [Related]
38. Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
Majtan T; Pey AL; Gimenez-Mascarell P; Martínez-Cruz LA; Szabo C; Kožich V; Kraus JP
Handb Exp Pharmacol; 2018; 245():345-383. PubMed ID: 29119254
[TBL] [Abstract][Full Text] [Related]
39. Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening.
Asamoah A; Wei S; Jackson KE; Hersh JH; Levy H
Int J Neonatal Screen; 2021 Jul; 7(3):. PubMed ID: 34449521
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]