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Page 1
Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency.
Rocha MS, Teerlink T, Janssen MC, Kluijtmans LA, Smulders Y, Jakobs C, Tavares de Almeida I, Rivera I, Castro R, Blom HJ. Rocha MS, et al. Among authors: janssen mc. Atherosclerosis. 2012 Jun;222(2):509-11. doi: 10.1016/j.atherosclerosis.2012.03.009. Epub 2012 Mar 24. Atherosclerosis. 2012. PMID: 22484094
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: janssen mc. 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
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
Coene KLM, Kluijtmans LAJ, van der Heeft E, Engelke UFH, de Boer S, Hoegen B, Kwast HJT, van de Vorst M, Huigen MCDG, Keularts IMLW, Schreuder MF, van Karnebeek CDM, Wortmann SB, de Vries MC, Janssen MCH, Gilissen C, Engel J, Wevers RA. Coene KLM, et al. Among authors: janssen mch. J Inherit Metab Dis. 2018 May;41(3):337-353. doi: 10.1007/s10545-017-0131-6. Epub 2018 Feb 16. J Inherit Metab Dis. 2018. PMID: 29453510 Free PMC article.
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation.
Coene KLM, Timmer C, Goorden SMI, Ten Hoedt AE, Kluijtmans LAJ, Janssen MCH, Rennings AJM, Prinsen HCMT, Wamelink MMC, Ruijter GJG, Körver-Keularts IMLW, Heiner-Fokkema MR, van Spronsen FJ, Hollak CE, Vaz FM, Bosch AM, Huigen MCDG. Coene KLM, et al. JIMD Rep. 2020 Nov 22;58(1):70-79. doi: 10.1002/jmd2.12186. eCollection 2021 Mar. JIMD Rep. 2020. PMID: 33728249 Free PMC article.
Inheritance of the m.3243A>G mutation.
de Laat P, Koene S, Heuvel LP, Rodenburg RJ, Janssen MC, Smeitink JA. de Laat P, et al. Among authors: janssen mc. JIMD Rep. 2013;8:47-50. doi: 10.1007/8904_2012_159. Epub 2012 Jul 6. JIMD Rep. 2013. PMID: 23430519 Free PMC article.
Increased prevalence of Parkinson's disease in alkaptonuria.
Ranganath L, Khedr M, Milan AM, Davison AS, Norman BP, Janssen MCH, Lock E, Bou-Gharios G, Gallagher JA. Ranganath L, et al. JIMD Rep. 2023 May 11;64(4):282-292. doi: 10.1002/jmd2.12367. eCollection 2023 Jul. JIMD Rep. 2023. PMID: 37404676 Free PMC article.
207 results