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Reduced brain choline in homocystinuria due to remethylation defects.
Debray FG, Boulanger Y, Khiat A, Decarie JC, Orquin J, Roy MS, Lortie A, Ramos F, Verhoeven NM, Struys E, Blom HJ, Jakobs C, Levy E, Mitchell GA, Lambert M. Debray FG, et al. Among authors: blom hj. Neurology. 2008 Jul 1;71(1):44-9. doi: 10.1212/01.wnl.0000316391.40236.c3. Neurology. 2008. PMID: 18591504
Fatal haemorrhagic infarct in an infant with homocystinuria.
Cardo E, Campistol J, Caritg J, Ruiz S, Vilaseca MA, Kirkham F, Blom HJ. Cardo E, et al. Among authors: blom hj. Dev Med Child Neurol. 1999 Feb;41(2):132-5. doi: 10.1017/s0012162299000250. Dev Med Child Neurol. 1999. PMID: 10075100
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
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