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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 3
1998 5
1999 6
2000 2
2001 1
2002 3
2003 5
2004 6
2005 10
2006 13
2007 12
2008 11
2009 15
2010 22
2011 19
2012 23
2013 19
2014 16
2015 21
2016 11
2017 12
2018 10
2019 13
2020 12
2021 15
2022 9
2023 6
2024 6

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297 results

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Page 1
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Baumgartner MR, et al. Among authors: wijburg f. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Orphanet J Rare Dis. 2014. PMID: 25205257 Free PMC article. Review.
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.
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
Scharre S, Posset R, Garbade SF, Gleich F, Seidl MJ, Druck AC, Okun JG, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Scharre S, et al. Ann Clin Transl Neurol. 2022 Nov;9(11):1715-1726. doi: 10.1002/acn3.51668. Epub 2022 Oct 10. Ann Clin Transl Neurol. 2022. PMID: 36217298 Free PMC article.
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM Jr, van Karnebeek C; International PDE Consortium. Coughlin CR, et al. Among authors: wijburg fa. Neurology. 2022 Dec 5;99(23):e2627-e2636. doi: 10.1212/WNL.0000000000201222. Neurology. 2022. PMID: 36008148 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.
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.
297 results