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

Year Number of Results
2002 1
2006 3
2007 2
2008 1
2009 6
2010 6
2011 4
2012 5
2013 6
2014 6
2015 3
2016 7
2017 6
2018 16
2019 14
2020 14
2021 16
2022 18
2023 12
2024 5

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124 results

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Page 1
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. Among authors: lee j. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 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: lee j. 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
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: lee j. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Towards a More Patient-Centered Approach to Medication Safety.
Lee JL, Dy SM, Gurses AP, Kim JM, Suarez-Cuervo C, Berger ZD, Brown R, Xiao Y. Lee JL, et al. J Patient Exp. 2018 Jun;5(2):83-87. doi: 10.1177/2374373517727532. Epub 2017 Sep 19. J Patient Exp. 2018. PMID: 29978022 Free PMC article. Review. No abstract available.
Biologics (mepolizumab and omalizumab) induced remission in severe asthma patients.
Thomas D, McDonald VM, Stevens S, Harvey ES, Baraket M, Bardin P, Bowden JJ, Bowler S, Chien J, Chung LP, Gillman A, Hew M, Hodge S, James A, Jenkins C, Katelaris CH, Katsoulotos GP, Langton D, Lee J, Marks G, Peters M, Radhakrishna N, Reynolds PN, Rimmer J, Sivakumaran P, Upham JW, Wark P, Yang IA, Gibson PG. Thomas D, et al. Among authors: lee j. Allergy. 2024 Feb;79(2):384-392. doi: 10.1111/all.15867. Epub 2023 Aug 25. Allergy. 2024. PMID: 37632144
Ethylmalonic encephalopathy masquerading as meningococcemia.
Horton A, Hong KM, Pandithan D, Allen M, Killick C, Goergen S, Springer A, Phelan D, Marty M, Halligan R, Lee J, Pitt J, Chong B, Christodoulou J, Lunke S, Stark Z, Fahey M. Horton A, et al. Among authors: lee j. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006193. doi: 10.1101/mcs.a006193. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35165146 Free PMC article.
Eye tracking: empirical foundations for a minimal reporting guideline.
Holmqvist K, Örbom SL, Hooge ITC, Niehorster DC, Alexander RG, Andersson R, Benjamins JS, Blignaut P, Brouwer AM, Chuang LL, Dalrymple KA, Drieghe D, Dunn MJ, Ettinger U, Fiedler S, Foulsham T, van der Geest JN, Hansen DW, Hutton SB, Kasneci E, Kingstone A, Knox PC, Kok EM, Lee H, Lee JY, Leppänen JM, Macknik S, Majaranta P, Martinez-Conde S, Nuthmann A, Nyström M, Orquin JL, Otero-Millan J, Park SY, Popelka S, Proudlock F, Renkewitz F, Roorda A, Schulte-Mecklenbeck M, Sharif B, Shic F, Shovman M, Thomas MG, Venrooij W, Zemblys R, Hessels RS. Holmqvist K, et al. Among authors: lee jy. Behav Res Methods. 2023 Jan;55(1):364-416. doi: 10.3758/s13428-021-01762-8. Epub 2022 Apr 6. Behav Res Methods. 2023. PMID: 35384605 Free PMC article. Retracted. Review.
Diagnosis of severe asthma.
Tay TR, Lee JW, Hew M. Tay TR, et al. Among authors: lee jw. Med J Aust. 2018 Jul 16;209(S2):S3-S10. doi: 10.5694/mja18.00125. Med J Aust. 2018. PMID: 30453866
124 results