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Items: 1 to 20 of 106

1.

Classical familial homocystinuria in an adult presenting as an isolated lens subluxation.

Martínez-Gutiérrez JD, Mencía-Gutiérrez E, Gracia-García-Miguel T, Gutiérrez-Díaz E, López-Tizón E.

Int Ophthalmol. 2011 Jun;31(3):227-32. doi: 10.1007/s10792-011-9444-x. Epub 2011 May 31.

PMID:
21626167
2.

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 25;534(2):197-203. doi: 10.1016/j.gene.2013.10.060. Epub 2013 Nov 6.

PMID:
24211323
3.

Delay in diagnosis of homocystinuria: retrospective study of consecutive patients.

Cruysberg JR, Boers GH, Trijbels JM, Deutman AF.

BMJ. 1996 Oct 26;313(7064):1037-40.

4.

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 15;336(1-2):257-9. doi: 10.1016/j.jns.2013.10.009. Epub 2013 Oct 11.

PMID:
24169224
5.

Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations.

Couser NL, McClure J, Evans MW, Haines NR, Burden SK, Muenzer J.

Ophthalmic Genet. 2017 Jan-Feb;38(1):91-94. doi: 10.3109/13816810.2016.1143017. Epub 2016 Apr 4.

PMID:
27046515
6.

Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.

Silao CL, Fabella TD, Rama KI, Estrada SC.

Pediatr Int. 2015 Oct;57(5):884-7. doi: 10.1111/ped.12666. Epub 2015 Sep 14.

PMID:
25939784
7.

Homocystinuria and ectopia lentis.

Hagee MJ.

J Am Optom Assoc. 1984 Apr;55(4):269-76.

PMID:
6609947
8.

The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective.

Shafique M, Muzaffar W, Ishaq M.

Int Ophthalmol. 2016 Feb;36(1):79-83. doi: 10.1007/s10792-015-0074-6. Epub 2015 May 17.

PMID:
25982157
9.

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.

PMID:
11774777
10.
11.

[Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase].

Lefaucheur R, Triquenot-Bagan A, Quillard M, Genevois O, Hannequin D.

Rev Neurol (Paris). 2008 Aug-Sep;164(8-9):728-32. doi: 10.1016/j.neurol.2007.12.004. Epub 2008 Jun 26. French.

PMID:
18805305
12.

Acute psychosis in an adolescent with undiagnosed homocystinuria.

Colafrancesco G, Di Marzio GM, Abbracciavento G, Stoppioni V, Leuzzi V, Ferrara M.

Eur J Pediatr. 2015 Sep;174(9):1263-6. doi: 10.1007/s00431-015-2552-2. Epub 2015 May 5.

PMID:
25939413
13.

Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.

Melenovská P, Kopecká J, Krijt J, Hnízda A, Raková K, Janošík M, Wilcken B, Kožich V.

J Inherit Metab Dis. 2015 Mar;38(2):287-94. doi: 10.1007/s10545-014-9781-9. Epub 2014 Oct 21.

PMID:
25331909
14.

Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia.

Sørensen JT, Gaustadnes M, Stabler SP, Allen RH, Mudd SH, Hvas AM.

Mol Genet Metab. 2016 Mar;117(3):344-50. doi: 10.1016/j.ymgme.2015.12.010. Epub 2015 Dec 23.

PMID:
26750749
15.

A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

Shih VE, Fringer JM, Mandell R, Kraus JP, Berry GT, Heidenreich RA, Korson MS, Levy HL, Ramesh V.

Am J Hum Genet. 1995 Jul;57(1):34-9.

16.

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 15;5:17947. doi: 10.1038/srep17947.

17.

[Hereditary ectopia lentis].

Neuhann TM.

Klin Monbl Augenheilkd. 2015 Mar;232(3):259-65. doi: 10.1055/s-0034-1383330. Epub 2015 Feb 5. Review. German.

PMID:
25654236
18.

Genetics of ectopia lentis.

Sadiq MA, Vanderveen D.

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):313-20. doi: 10.3109/08820538.2013.825276. Review.

PMID:
24138040
19.

Ectopia lentis.

Nelson LB, Maumenee IH.

Surv Ophthalmol. 1982 Nov-Dec;27(3):143-60.

PMID:
6984233
20.

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. doi: 10.1111/j.1399-0004.2011.01690.x. Epub 2011 May 18.

PMID:
21517828

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