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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 21
2013 19
2014 15
2015 20
2016 9
2017 11
2018 10
2019 13
2020 12
2021 14
2022 8
2023 4
2024 6
2025 0

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277 results

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Page 1
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.
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 Free 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.
Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials.
Müller AR, den Hollander B, van de Ven PM, Roes KCB, Geertjens L, Bruining H, van Karnebeek CDM, Jansen FE, de Wit MCY, Ten Hoopen LW, Rietman AB, Dierckx B, Wijburg FA, Boot E, Brands MMG, van Eeghen AM. Müller AR, et al. Among authors: wijburg fa. BMC Psychiatry. 2024 Jan 4;24(1):23. doi: 10.1186/s12888-023-05422-3. BMC Psychiatry. 2024. PMID: 38177999 Free PMC 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.
Disorders of mitochondrial fatty acyl-CoA beta-oxidation.
Wanders RJ, Vreken P, den Boer ME, Wijburg FA, van Gennip AH, IJlst L. Wanders RJ, et al. Among authors: wijburg fa. J Inherit Metab Dis. 1999 Jun;22(4):442-87. doi: 10.1023/a:1005504223140. J Inherit Metab Dis. 1999. PMID: 10407780 Review.
Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.
Bugiani M, Abbink TEM, Edridge AWD, van der Hoek L, Hillen AEJ, van Til NP, Hu-A-Ng GV, Breur M, Aiach K, Drevot P, Hocquemiller M, Laufer R, Wijburg FA, van der Knaap MS. Bugiani M, et al. Among authors: wijburg fa. Ann Clin Transl Neurol. 2023 Jun;10(6):904-917. doi: 10.1002/acn3.51772. Epub 2023 May 11. Ann Clin Transl Neurol. 2023. PMID: 37165777 Free PMC article.
277 results