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Page 1
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD); Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M. Keller R, et al. Among authors: blom hj. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. J Inherit Metab Dis. 2019. PMID: 30740731 Free article.
Persistent hypermethioninaemia with dominant inheritance.
Blom HJ, Davidson AJ, Finkelstein JD, Luder AS, Bernardini I, Martin JJ, Tangerman A, Trijbels JM, Mudd SH, Goodman SI, et al. Blom HJ, et al. J Inherit Metab Dis. 1992;15(2):188-97. doi: 10.1007/BF01799629. J Inherit Metab Dis. 1992. PMID: 1527987
The homocysteine controversy.
Smulders YM, Blom HJ. Smulders YM, et al. Among authors: blom hj. J Inherit Metab Dis. 2011 Feb;34(1):93-9. doi: 10.1007/s10545-010-9151-1. Epub 2010 Jun 22. J Inherit Metab Dis. 2011. PMID: 20567905 Free PMC article. Review.
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.
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
382 results