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Page 1
Adult GAMT deficiency: A literature review and report of two siblings.
Modi BP, Khan HN, van der Lee R, Wasim M, Haaxma CA, Richmond PA, Drögemöller B, Shah S, Salomons G, van der Kloet FM, Vaz FM, van der Crabben SN, Ross CJ, Wasserman WW, van Karnebeek CDM, Awan FR. Modi BP, et al. Mol Genet Metab Rep. 2021 Apr 26;27:100761. doi: 10.1016/j.ymgmr.2021.100761. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33996490 Free PMC article.
Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.
Demirdas S, van Spronsen FJ, Hollak CEM, van der Lee JH, Bisschop PH, Vaz FM, Ter Horst NM, Rubio-Gozalbo ME, Bosch AM. Demirdas S, et al. Ann Nutr Metab. 2017;70(2):111-121. doi: 10.1159/000465529. Epub 2017 Mar 24. Ann Nutr Metab. 2017. PMID: 28334709 Free PMC article.
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.
Welsink-Karssies MM, Ferdinandusse S, Geurtsen GJ, Hollak CEM, Huidekoper HH, Janssen MCH, Langendonk JG, van der Lee JH, O'Flaherty R, Oostrom KJ, Roosendaal SD, Rubio-Gozalbo ME, Saldova R, Treacy EP, Vaz FM, de Vries MC, Engelen M, Bosch AM. Welsink-Karssies MM, et al. Brain Commun. 2020 Jan 29;2(1):fcaa006. doi: 10.1093/braincomms/fcaa006. eCollection 2020. Brain Commun. 2020. PMID: 32954279 Free PMC article.
Duodenal mucosal resurfacing with a GLP-1 receptor agonist increases postprandial unconjugated bile acids in patients with insulin-dependent type 2 diabetes.
Meiring S, Meessen ECE, van Baar ACG, Holleman F, Nieuwdorp M, Olde Damink SW, Schaap FG, Vaz FM, Groen AK, Soeters MR, Bergman JJGHM. Meiring S, et al. Among authors: vaz fm. Am J Physiol Endocrinol Metab. 2022 Feb 1;322(2):E132-E140. doi: 10.1152/ajpendo.00337.2021. Epub 2021 Dec 27. Am J Physiol Endocrinol Metab. 2022. PMID: 34957857 Free PMC article.
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.
Tort F, Ugarteburu O, Texidó L, Gea-Sorlí S, García-Villoria J, Ferrer-Cortès X, Arias Á, Matalonga L, Gort L, Ferrer I, Guitart-Mampel M, Garrabou G, Vaz FM, Pristoupilova A, Rodríguez MIE, Beltran S, Cardellach F, Wanders RJ, Fillat C, García-Silva MT, Ribes A. Tort F, et al. Among authors: vaz fm. Hum Mutat. 2019 Oct;40(10):1700-1712. doi: 10.1002/humu.23779. Epub 2019 May 17. Hum Mutat. 2019. PMID: 31058414
623 results