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Results: 1 to 20 of 35

1.

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 15;539(2):270-4. doi: 10.1016/j.gene.2014.02.015. Epub 2014 Feb 15.

PMID:
24534463
[PubMed - indexed for MEDLINE]
2.

Neonatal aortic thrombosis as a result of congenital homocystinuria.

Jasani B, Nanavati R.

Indian Pediatr. 2013 Nov 8;50(11):1054-6.

PMID:
24382903
[PubMed - indexed for MEDLINE]
Free Article
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 25;534(2):197-203. doi: 10.1016/j.gene.2013.10.060. Epub 2013 Nov 6.

PMID:
24211323
[PubMed - indexed for MEDLINE]
4.

Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.

Cornec-Le Gall E, Delmas Y, De Parscau L, Doucet L, Ogier H, Benoist JF, Fremeaux-Bacchi V, Le Meur Y.

Am J Kidney Dis. 2014 Jan;63(1):119-23. doi: 10.1053/j.ajkd.2013.08.031. Epub 2013 Nov 6.

PMID:
24210589
[PubMed - indexed for MEDLINE]
5.

Dietary practices in pyridoxine non-responsive homocystinuria: a European survey.

Adam S, Almeida MF, Carbasius Weber E, Champion H, Chan H, Daly A, Dixon M, Dokoupil K, Egli D, Evans S, Eyskens F, Faria A, Ferguson C, Hallam P, Heddrich-Ellerbrok M, Jacobs J, Jankowski C, Lachmann R, Lilje R, Link R, Lowry S, Luyten K, MacDonald A, Maritz C, Martins E, Meyer U, Müller E, Murphy E, Robertson LV, Rocha JC, Saruggia I, Schick P, Stafford J, Stoelen L, Terry A, Thom R, van den Hurk T, van Rijn M, van Teefelen-Heithoff A, Webster D, White FJ, Wildgoose J, Zweers H.

Mol Genet Metab. 2013 Dec;110(4):454-9. doi: 10.1016/j.ymgme.2013.10.003. Epub 2013 Oct 10.

PMID:
24206934
[PubMed - indexed for MEDLINE]
6.

Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.

Gizicki R, Robert MC, Gómez-López L, Orquin J, Decarie JC, Mitchell GA, Roy MS, Ospina LH.

Ophthalmology. 2014 Jan;121(1):381-6. doi: 10.1016/j.ophtha.2013.08.034. Epub 2013 Oct 11.

PMID:
24126030
[PubMed - indexed for MEDLINE]
7.

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 15;531(1):117-24. doi: 10.1016/j.gene.2013.08.021. Epub 2013 Aug 24.

PMID:
23981774
[PubMed - indexed for MEDLINE]
8.

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.

Weisfeld-Adams JD, Bender HA, Miley-Åkerstedt A, Frempong T, Schrager NL, Patel K, Naidich TP, Stein V, Spat J, Towns S, Wasserstein MP, Peter I, Frank Y, Diaz GA.

Mol Genet Metab. 2013 Nov;110(3):241-7. doi: 10.1016/j.ymgme.2013.07.018. Epub 2013 Jul 25.

PMID:
23954310
[PubMed - indexed for MEDLINE]
9.

Newborn screening for homocystinuria.

Walter JH, Jahnke N, Remmington T.

Cochrane Database Syst Rev. 2013 Aug 1;8:CD008840. doi: 10.1002/14651858.CD008840.pub3. Review.

PMID:
23908001
[PubMed - indexed for MEDLINE]
10.

Changes in bone mineral density and body composition of children with well-controlled homocystinuria caused by CBS deficiency.

Lim JS, Lee DH.

Osteoporos Int. 2013 Sep;24(9):2535-8. doi: 10.1007/s00198-013-2351-4. Epub 2013 May 18.

PMID:
23685761
[PubMed - indexed for MEDLINE]
11.

Woman with sudden loss of vision: homocystinuria.

Venincasa VD, Sridhar J.

JAMA Ophthalmol. 2013 Apr;131(4):531-2. doi: 10.1001/jamaophthalmol.2013.304a. No abstract available.

PMID:
23579604
[PubMed - indexed for MEDLINE]
12.

Homocystinuria with lower gastrointestinal bleeding: first case report.

Al Humaidan M, Al Sharkawy I, Al Sanae A, Al Refaee F.

Med Princ Pract. 2013;22(5):500-2. doi: 10.1159/000345639. Epub 2012 Dec 18.

PMID:
23258193
[PubMed - indexed for MEDLINE]
13.

Anaesthetic management of a young patient with homocystinuria.

Asghar A, Ali FM.

J Coll Physicians Surg Pak. 2012 Nov;22(11):720-2. doi: 11.2012/JCPSP.720722.

PMID:
23146854
[PubMed - indexed for MEDLINE]
14.

Treatment of inherited homocystinurias.

Schiff M, Blom HJ.

Neuropediatrics. 2012 Dec;43(6):295-304. doi: 10.1055/s-0032-1329883. Epub 2012 Nov 2. Review.

PMID:
23124942
[PubMed - indexed for MEDLINE]
15.

Does phase angle correlate with hyperhomocysteinemia? A study of patients with classical homocystinuria.

Poloni S, Schweigert Perry ID, D'Almeida V, Schwartz IV.

Clin Nutr. 2013 Jun;32(3):479-80. doi: 10.1016/j.clnu.2012.07.012. Epub 2012 Aug 7.

PMID:
22939707
[PubMed - indexed for MEDLINE]
16.

Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria.

Fuchs LR, Robert M, Ingster-Moati I, Couette L, Dufier JL, de Lonlay P, Brodie SE.

J AAPOS. 2012 Aug;16(4):370-5. doi: 10.1016/j.jaapos.2012.02.019.

PMID:
22929452
[PubMed - indexed for MEDLINE]
17.

Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects.

Richard E, Desviat LR, Ugarte M, Pérez B.

J Cell Biochem. 2013 Jan;114(1):183-91. doi: 10.1002/jcb.24316.

PMID:
22887477
[PubMed - indexed for MEDLINE]
18.

Homocystinuria and oral health. A report of 14 cases.

Björksved M, Arnrup K.

Swed Dent J. 2012;36(2):101-8.

PMID:
22876397
[PubMed - indexed for MEDLINE]
19.

Homocystinuria masquerading as vitamin B12 deficiency.

Wadhwani M, Beri S, Saili A, Garg S.

Nepal J Ophthalmol. 2012 Jul-Dec;4(2):326-8. doi: http://dx.doi.org/10.3126/nepjoph.v4i2.6554.

PMID:
22864044
[PubMed - indexed for MEDLINE]
20.

Cystathionine protects against endoplasmic reticulum stress-induced lipid accumulation, tissue injury, and apoptotic cell death.

Maclean KN, Greiner LS, Evans JR, Sood SK, Lhotak S, Markham NE, Stabler SP, Allen RH, Austin RC, Balasubramaniam V, Jiang H.

J Biol Chem. 2012 Sep 14;287(38):31994-2005. doi: 10.1074/jbc.M112.355172. Epub 2012 Aug 1.

PMID:
22854956
[PubMed - indexed for MEDLINE]
Free PMC Article

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