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Items: 1 to 20 of 57

1.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C.

J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30.

2.

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. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. Review.

3.

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, Opladen T, Petković Ramadža D, Rakić B, Wedell A, Blom HJ.

J Inherit Metab Dis. 2017 Jan;40(1):5-20. doi: 10.1007/s10545-016-9972-7. Epub 2016 Sep 26. Review.

4.

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 1;126(6):2372-84. doi: 10.1172/JCI85396. Epub 2016 May 16.

5.

Low bone mineral density is a common finding in patients with homocystinuria.

Weber DR, Coughlin C, Brodsky JL, Lindstrom K, Ficicioglu C, Kaplan P, Freehauf CL, Levine MA.

Mol Genet Metab. 2016 Mar;117(3):351-4. doi: 10.1016/j.ymgme.2015.12.003. Epub 2015 Dec 10.

6.

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 1;438:261-5. doi: 10.1016/j.cca.2014.09.009. Epub 2014 Sep 16.

PMID:
25218699
7.

Inaugural cerebral sinovenous thrombosis revealing homocystinuria in a 2-year-old boy.

Saboul C, Darteyre S, Ged C, Fichtner C, Gay C, Stephan JL.

J Child Neurol. 2015 Jan;30(1):107-12. doi: 10.1177/0883073813520502. Epub 2014 Mar 5.

PMID:
24598125
8.

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
9.

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
10.

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.

Mendes MI, Colaço HG, Smith DE, Ramos RJ, Pop A, van Dooren SJ, Tavares de Almeida I, Kluijtmans LA, Janssen MC, Rivera I, Salomons GS, Leandro P, Blom HJ.

J Inherit Metab Dis. 2014 Mar;37(2):245-54. doi: 10.1007/s10545-013-9647-6. Epub 2013 Aug 23.

PMID:
23974653
11.

A forgotten lethal psychosis: a case report.

Hidalgo Mazzei D, Martín Rodriguez S, Pérez Moltó H, Ruíz Izquierdo J, Baeza I.

Eur Child Adolesc Psychiatry. 2014 Apr;23(4):235-8. doi: 10.1007/s00787-013-0449-z. Epub 2013 Jun 29.

PMID:
23812867
12.

A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts.

Smith DE, Mendes MI, Kluijtmans LA, Janssen MC, Smulders YM, Blom HJ.

J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Dec 12;911:186-91. doi: 10.1016/j.jchromb.2012.10.041. Epub 2012 Nov 3.

PMID:
23217323
13.

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. doi: 10.1016/j.ymgme.2011.11.190. Epub 2011 Dec 2.

PMID:
22192524
14.

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. doi: 10.1002/humu.21514. Epub 2011 Jun 7.

PMID:
21520339
15.

Hypermethioninemias of genetic and non-genetic origin: A review.

Mudd SH.

Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):3-32. doi: 10.1002/ajmg.c.30293. Epub 2011 Feb 9. Review.

PMID:
21308989
16.

Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Krijt J, Kopecká J, Hnízda A, Moat S, Kluijtmans LA, Mayne P, Kožich V.

J Inherit Metab Dis. 2011 Feb;34(1):49-55. doi: 10.1007/s10545-010-9178-3. Epub 2010 Sep 7.

17.

Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.

Turgeon CT, Magera MJ, Cuthbert CD, Loken PR, Gavrilov DK, Tortorelli S, Raymond KM, Oglesbee D, Rinaldo P, Matern D.

Clin Chem. 2010 Nov;56(11):1686-95. doi: 10.1373/clinchem.2010.148957. Epub 2010 Aug 31.

18.

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

Magner M, Krupková L, Honzík T, Zeman J, Hyánek J, Kožich V.

J Inherit Metab Dis. 2011 Feb;34(1):33-7. doi: 10.1007/s10545-010-9146-y. Epub 2010 Jun 22.

19.

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.

Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK.

J Pediatr. 2010 Aug;157(2):271-5. doi: 10.1016/j.jpeds.2010.02.027. Epub 2010 Apr 14.

PMID:
20394947
20.

Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-beta-synthase deficiency.

Novy J, Ballhausen D, Bonafé L, Cairoli A, Angelillo-Scherrer A, Bachmann C, Michel P.

Thromb Haemost. 2010 Apr;103(4):871-3. doi: 10.1160/TH09-10-0737. Epub 2010 Feb 19. No abstract available.

PMID:
20174770

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