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Page 1
Postauthorization safety study of betaine anhydrous.
Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Petković Ramadža D, Baumgartner MR, Cano A, García Jiménez MC, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Meavilla Olivas S, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V, Kölker S. Mütze U, et al. Among authors: blom hj. J Inherit Metab Dis. 2022 Jul;45(4):719-733. doi: 10.1002/jimd.12499. Epub 2022 Apr 6. J Inherit Metab Dis. 2022. PMID: 35358327 Free article.
Lipid peroxidation in homocysteinaemia.
Blom HJ, Engelen DP, Boers GH, Stadhouders AM, Sengers RC, de Abreu R, TePoele-Pothoff MT, Trijbels JM. Blom HJ, et al. J Inherit Metab Dis. 1992;15(3):419-22. doi: 10.1007/BF02435993. J Inherit Metab Dis. 1992. PMID: 1405484 No abstract available.
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.
Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V. Vyletal P, et al. Among authors: blom hj. Hum Mutat. 2007 Mar;28(3):255-64. doi: 10.1002/humu.20430. Hum Mutat. 2007. PMID: 17072863 Free PMC article.
Foreword to special issue on homocysteine disorders.
Fowler B, Blom HJ, Kožich V. Fowler B, et al. Among authors: blom hj. J Inherit Metab Dis. 2011 Feb;34(1):1-2. doi: 10.1007/s10545-010-9257-5. J Inherit Metab Dis. 2011. PMID: 21221810 Free PMC article. No abstract available.
Treatment of inherited homocystinurias.
Schiff M, Blom HJ. Schiff M, et al. Among authors: blom hj. Neuropediatrics. 2012 Dec;43(6):295-304. doi: 10.1055/s-0032-1329883. Epub 2012 Nov 2. Neuropediatrics. 2012. PMID: 23124942 Review.
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. Mendes MI, et al. Among authors: blom hj. J Inherit Metab Dis. 2014 Mar;37(2):245-54. doi: 10.1007/s10545-013-9647-6. Epub 2013 Aug 23. J Inherit Metab Dis. 2014. PMID: 23974653
High homocysteine induces betaine depletion.
Imbard A, Benoist JF, Esse R, Gupta S, Lebon S, de Vriese AS, de Baulny HO, Kruger W, Schiff M, Blom HJ. Imbard A, et al. Among authors: blom hj. Biosci Rep. 2015 Apr 28;35(4):e00222. doi: 10.1042/BSR20150094. Biosci Rep. 2015. PMID: 26182429 Free PMC article.
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.
Staufner C, Lindner M, Dionisi-Vici C, Freisinger P, Dobbelaere D, Douillard C, Makhseed N, Straub BK, Kahrizi K, Ballhausen D, la Marca G, Kölker S, Haas D, Hoffmann GF, Grünert SC, Blom HJ. Staufner C, et al. Among authors: blom hj. J Inherit Metab Dis. 2016 Mar;39(2):273-83. doi: 10.1007/s10545-015-9904-y. Epub 2015 Dec 7. J Inherit Metab Dis. 2016. PMID: 26642971
382 results