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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 1
2012 4
2013 2
2014 1
2015 1
2016 1
2017 1
2018 1
2019 14
2020 7
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29 results
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Page 1
Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications.
Haijes HA, Jans JJM, Tas SY, Verhoeven-Duif NM, van Hasselt PM. Haijes HA, et al. Among authors: jans jjm. J Inherit Metab Dis. 2019 Sep;42(5):730-744. doi: 10.1002/jimd.12129. Epub 2019 Aug 7. J Inherit Metab Dis. 2019. PMID: 31119747 Review.
Inborn errors of enzymes in glutamate metabolism.
Rumping L, Vringer E, Houwen RHJ, van Hasselt PM, Jans JJM, Verhoeven-Duif NM. Rumping L, et al. Among authors: jans jjm. J Inherit Metab Dis. 2020 Mar;43(2):200-215. doi: 10.1002/jimd.12180. Epub 2019 Oct 11. J Inherit Metab Dis. 2020. PMID: 31603991 Free PMC article. Review.
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies.
Haijes HA, van Hasselt PM, Jans JJM, Verhoeven-Duif NM. Haijes HA, et al. Among authors: jans jjm. J Inherit Metab Dis. 2019 Sep;42(5):745-761. doi: 10.1002/jimd.12128. Epub 2019 Jul 9. J Inherit Metab Dis. 2019. PMID: 31119742 Review.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, François B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Abi Warde MT, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rötig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V. Ait-El-Mkadem S, et al. Among authors: jans jjm. Am J Hum Genet. 2017 Jan 5;100(1):151-159. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15. Am J Hum Genet. 2017. PMID: 27989324 Free PMC article.
MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.
Broeks MH, Shamseldin HE, Alhashem A, Hashem M, Abdulwahab F, Alshedi T, Alobaid I, Zwartkruis F, Westland D, Fuchs S, Verhoeven-Duif NM, Jans JJM, Alkuraya FS. Broeks MH, et al. Among authors: jans jjm. Hum Genet. 2019 Dec;138(11-12):1247-1257. doi: 10.1007/s00439-019-02063-z. Epub 2019 Sep 19. Hum Genet. 2019. PMID: 31538237
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.
Haijes HA, Prinsen HCMT, de Sain-van der Velden MGM, Verhoeven-Duif NM, van Hasselt PM, Jans JJM. Haijes HA, et al. Among authors: jans jjm. Mol Genet Metab Rep. 2019 Dec 27;22:100551. doi: 10.1016/j.ymgmr.2019.100551. eCollection 2020 Mar. Mol Genet Metab Rep. 2019. PMID: 31908951 Free PMC article.
Discovery of pyridoxal reductase activity as part of human vitamin B6 metabolism.
Ramos RJ, Albersen M, Vringer E, Bosma M, Zwakenberg S, Zwartkruis F, Jans JJM, Verhoeven-Duif NM. Ramos RJ, et al. Among authors: jans jjm. Biochim Biophys Acta Gen Subj. 2019 Jun;1863(6):1088-1097. doi: 10.1016/j.bbagen.2019.03.019. Epub 2019 Mar 27. Biochim Biophys Acta Gen Subj. 2019. PMID: 30928491 Free article.
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
Haijes HA, Molema F, Langeveld M, Janssen MC, Bosch AM, van Spronsen F, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Langendonk JG, Williams M, van Hasselt PM. Haijes HA, et al. Among authors: jans jjm. J Inherit Metab Dis. 2020 May;43(3):424-437. doi: 10.1002/jimd.12193. Epub 2019 Dec 22. J Inherit Metab Dis. 2020. PMID: 31828787 Free PMC article.
Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity.
Rumping L, Pras-Raves ML, Gerrits J, Tang YF, Willemsen MA, Houwen RHJ, van Haaften G, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Rumping L, et al. Among authors: jans jjm. Biochim Biophys Acta Gen Subj. 2020 Mar;1864(3):129484. doi: 10.1016/j.bbagen.2019.129484. Epub 2019 Nov 14. Biochim Biophys Acta Gen Subj. 2020. PMID: 31734463 Free article.
The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma.
Loohuis LM, Albersen M, de Jong S, Wu T, Luykx JJ, Jans JJM, Verhoeven-Duif NM, Ophoff RA. Loohuis LM, et al. Among authors: jans jjm. Genes (Basel). 2018 Dec 22;10(1):8. doi: 10.3390/genes10010008. Genes (Basel). 2018. PMID: 30583557 Free PMC article.
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