Smith DEC - Search Results

1

5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings.

Liepina L, Smith DEC, Huidekoper H, Zeidler S, Wamelink M, de Wit MC, Wilke M, Ruijter G, Bierau J, Blom HJ. Liepina L, et al. Among authors: smith dec. JIMD Rep. 2024 Jan 14;65(2):49-55. doi: 10.1002/jmd2.12409. eCollection 2024 Mar. JIMD Rep. 2024. PMID: 38444578 Free PMC article.

2

Folic acid supplementation does not reduce intracellular homocysteine, and may disturb intracellular one-carbon metabolism.

Smith DE, Hornstra JM, Kok RM, Blom HJ, Smulders YM. Smith DE, et al. Clin Chem Lab Med. 2013 Aug;51(8):1643-50. doi: 10.1515/cclm-2012-0694. Clin Chem Lab Med. 2013. PMID: 23740686 Clinical Trial.

3

Determinants of the essential one-carbon metabolism metabolites, homocysteine, S-adenosylmethionine, S-adenosylhomocysteine and folate, in cerebrospinal fluid.

Smith DE, Smulders YM, Blom HJ, Popp J, Jessen F, Semmler A, Farkas M, Linnebank M. Smith DE, et al. Clin Chem Lab Med. 2012 Mar 24;50(9):1641-7. doi: 10.1515/cclm-2012-0056. Clin Chem Lab Med. 2012. PMID: 22962226 Free article.

4

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. Smith DE, et al. 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. J Chromatogr B Analyt Technol Biomed Life Sci. 2012. PMID: 23217323

5

Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism.

Wamelink MM, Smith DE, Jakobs C, Verhoeven NM. Wamelink MM, et al. J Inherit Metab Dis. 2005;28(6):951-63. doi: 10.1007/s10545-005-0233-4. J Inherit Metab Dis. 2005. PMID: 16435188

6

Simultaneous determination of asymmetric and symmetric dimethylarginine, L-monomethylarginine, L-arginine, and L-homoarginine in biological samples using stable isotope dilution liquid chromatography tandem mass spectrometry.

Davids M, Swieringa E, Palm F, Smith DE, Smulders YM, Scheffer PG, Blom HJ, Teerlink T. Davids M, et al. J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Jul 1;900:38-47. doi: 10.1016/j.jchromb.2012.05.025. Epub 2012 May 26. J Chromatogr B Analyt Technol Biomed Life Sci. 2012. PMID: 22682940

7

Intrauterine valproate exposure is associated with alterations in hippocampal cell numbers and folate metabolism in a rat model of valproate teratogenicity.

Semmler A, Frisch C, Bleul C, Smith D, Bigler L, Prost JC, Blom H, Linnebank M. Semmler A, et al. Seizure. 2017 Mar;46:7-12. doi: 10.1016/j.seizure.2017.01.003. Epub 2017 Jan 27. Seizure. 2017. PMID: 28212902 Free article.

8

Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine.

Wamelink MM, Smith DE, Jansen EE, Verhoeven NM, Struys EA, Jakobs C. Wamelink MM, et al. J Inherit Metab Dis. 2007 Oct;30(5):735-42. doi: 10.1007/s10545-007-0590-2. Epub 2007 Jun 27. J Inherit Metab Dis. 2007. PMID: 17603756

9

Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.

Mendes MI, Santos AS, Smith DE, Lino PR, Colaço HG, de Almeida IT, Vicente JB, Salomons GS, Rivera I, Blom HJ, Leandro P. Mendes MI, et al. Hum Mutat. 2014 Oct;35(10):1195-202. doi: 10.1002/humu.22616. Epub 2014 Jul 31. Hum Mutat. 2014. PMID: 25044645

10

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.

Mendes MI, Smith DE, Vicente JB, Tavares De Almeida I, Ben-Omran T, Salomons GS, Rivera IA, Leandro P, Blom HJ. Mendes MI, et al. Hum Mol Genet. 2015 Dec 20;24(25):7339-48. doi: 10.1093/hmg/ddv431. Epub 2015 Oct 12. Hum Mol Genet. 2015. PMID: 26464485

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