Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
2009 1
2010 2
2011 2
2012 5
2013 8
2014 7
2015 5
2016 5
2017 4
2018 4
2019 20
2020 11
2021 0
Text availability
Article attribute
Article type
Publication date

Search Results

64 results
Results by year
Filters applied: . Clear all
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: verhoeven duif nm. 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.
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: verhoeven duif nm. 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.
Identification of human D lactate dehydrogenase deficiency.
Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ. Monroe GR, et al. Among authors: verhoeven duif nm. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
van Karnebeek CDM, Ramos RJ, Wen XY, Tarailo-Graovac M, Gleeson JG, Skrypnyk C, Brand-Arzamendi K, Karbassi F, Issa MY, van der Lee R, Drögemöller BI, Koster J, Rousseau J, Campeau PM, Wang Y, Cao F, Li M, Ruiter J, Ciapaite J, Kluijtmans LAJ, Willemsen MAAP, Jans JJ, Ross CJ, Wintjes LT, Rodenburg RJ, Huigen MCDG, Jia Z, Waterham HR, Wasserman WW, Wanders RJA, Verhoeven-Duif NM, Zaki MS, Wevers RA. van Karnebeek CDM, et al. Among authors: verhoeven duif nm. Am J Hum Genet. 2019 Sep 5;105(3):534-548. doi: 10.1016/j.ajhg.2019.07.015. Epub 2019 Aug 15. Am J Hum Genet. 2019. PMID: 31422819 Free PMC article.
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: verhoeven duif nm. 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.
Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics.
Kerkhofs MHPM, Haijes HA, Willemsen AM, van Gassen KLI, van der Ham M, Gerrits J, de Sain-van der Velden MGM, Prinsen HCMT, van Deutekom HWM, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Kerkhofs MHPM, et al. Among authors: verhoeven duif nm. Metabolites. 2020 May 18;10(5):206. doi: 10.3390/metabo10050206. Metabolites. 2020. PMID: 32443577 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: verhoeven duif nm. 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.
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: verhoeven duif nm. 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.
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Al-Shekaili HH, Petkau TL, Pena I, Lengyell TC, Verhoeven-Duif NM, Ciapaite J, Bosma M, van Faassen M, Kema IP, Horvath G, Ross C, Simpson EM, Friedman JM, van Karnebeek C, Leavitt BR. Al-Shekaili HH, et al. Among authors: verhoeven duif nm. Hum Mol Genet. 2020 Nov 25;29(19):3266-3284. doi: 10.1093/hmg/ddaa202. Hum Mol Genet. 2020. PMID: 32969477
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: verhoeven duif nm. 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.
64 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page
Feedback