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

Year Number of Results
1985 1
1986 2
1988 2
1989 6
1990 5
1991 4
1992 4
1993 3
1994 2
1995 5
1996 6
1997 2
1998 4
1999 6
2000 2
2001 1
2002 2
2003 5
2004 6
2005 10
2006 12
2007 10
2008 11
2009 12
2010 19
2011 18
2012 20
2013 18
2014 14
2015 19
2016 9
2017 11
2018 9
2019 11
2020 12
2021 14
2022 7
2023 4

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266 results

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Page 1
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.
Knottnerus SJG, Bleeker JC, Wüst RCI, Ferdinandusse S, IJlst L, Wijburg FA, Wanders RJA, Visser G, Houtkooper RH. Knottnerus SJG, et al. Among authors: wijburg fa. Rev Endocr Metab Disord. 2018 Mar;19(1):93-106. doi: 10.1007/s11154-018-9448-1. Rev Endocr Metab Disord. 2018. PMID: 29926323 Free PMC article. Review.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, Hollak CE. Arends M, et al. Among authors: wijburg fa. J Am Soc Nephrol. 2017 May;28(5):1631-1641. doi: 10.1681/ASN.2016090964. Epub 2016 Dec 15. J Am Soc Nephrol. 2017. PMID: 27979989 Free PMC article.
Therapy for the mucopolysaccharidoses.
Valayannopoulos V, Wijburg FA. Valayannopoulos V, et al. Among authors: wijburg fa. Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v49-59. doi: 10.1093/rheumatology/ker396. Rheumatology (Oxford). 2011. PMID: 22210671 Review.
Cardiac disease in mucopolysaccharidosis type III.
Nijmeijer SCM, de Bruin-Bon RHACM, Wijburg FA, Kuipers IM. Nijmeijer SCM, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2019 Mar;42(2):276-285. doi: 10.1002/jimd.12015. Epub 2019 Jan 22. J Inherit Metab Dis. 2019. PMID: 30671988
Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.
van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg FA, Yu ZF, Janzen D, Shapiro E. van der Lee JH, et al. Among authors: wijburg fa. Mol Genet Metab. 2017 Jun;121(2):70-79. doi: 10.1016/j.ymgme.2017.05.004. Epub 2017 May 6. Mol Genet Metab. 2017. PMID: 28501294 Free article.
Sanfilippo syndrome: a mini-review.
Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Valstar MJ, et al. Among authors: wijburg fa. J Inherit Metab Dis. 2008 Apr;31(2):240-52. doi: 10.1007/s10545-008-0838-5. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392742 Review.
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA. Kuiper GA, et al. Among authors: wijburg fa. Orphanet J Rare Dis. 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. Orphanet J Rare Dis. 2019. PMID: 30658664 Free PMC article. Review.
266 results