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

Year Number of Results
1993 1
1996 2
1997 2
1998 2
1999 3
2000 4
2001 6
2002 1
2003 5
2004 8
2005 2
2006 5
2007 2
2008 8
2009 9
2010 8
2011 13
2012 22
2013 13
2014 10
2015 14
2016 8
2017 7
2018 16
2019 7
2020 16
2021 13
2022 15
2023 11
2024 7

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211 results

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Page 1
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC. Engelen M, et al. Among authors: lachmann rh. Neurology. 2022 Nov 22;99(21):940-951. doi: 10.1212/WNL.0000000000201374. Epub 2022 Sep 29. Neurology. 2022. PMID: 36175155 Free PMC article.
Editorial.
Lachmann R, Hollak C. Lachmann R, et al. J Inherit Metab Dis. 2018 Sep;41(5):899-900. doi: 10.1007/s10545-018-0237-5. J Inherit Metab Dis. 2018. PMID: 30547326 No abstract available.
Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.
Florio M, Albert M, Taverna E, Namba T, Brandl H, Lewitus E, Haffner C, Sykes A, Wong FK, Peters J, Guhr E, Klemroth S, Prüfer K, Kelso J, Naumann R, Nüsslein I, Dahl A, Lachmann R, Pääbo S, Huttner WB. Florio M, et al. Among authors: lachmann r. Science. 2015 Mar 27;347(6229):1465-70. doi: 10.1126/science.aaa1975. Epub 2015 Feb 26. Science. 2015. PMID: 25721503
Human cerebral organoids recapitulate gene expression programs of fetal neocortex development.
Camp JG, Badsha F, Florio M, Kanton S, Gerber T, Wilsch-Bräuninger M, Lewitus E, Sykes A, Hevers W, Lancaster M, Knoblich JA, Lachmann R, Pääbo S, Huttner WB, Treutlein B. Camp JG, et al. Among authors: lachmann r. Proc Natl Acad Sci U S A. 2015 Dec 22;112(51):15672-7. doi: 10.1073/pnas.1520760112. Epub 2015 Dec 7. Proc Natl Acad Sci U S A. 2015. PMID: 26644564 Free PMC article.
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Wasserstein M, Lachmann R, Hollak C, Arash-Kaps L, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Ikezoe T, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Villarrubia J, Chen Y, Furey S, Thurberg BL, Zaher A, Kumar M. Wasserstein M, et al. Among authors: lachmann r. Genet Med. 2022 Jul;24(7):1425-1436. doi: 10.1016/j.gim.2022.03.021. Epub 2022 Apr 26. Genet Med. 2022. PMID: 35471153 Free article. Clinical Trial.
A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial Evaluating the Efficacy of Burosumab, an Anti-FGF23 Antibody, in Adults With X-Linked Hypophosphatemia: Week 24 Primary Analysis.
Insogna KL, Briot K, Imel EA, Kamenický P, Ruppe MD, Portale AA, Weber T, Pitukcheewanont P, Cheong HI, Jan de Beur S, Imanishi Y, Ito N, Lachmann RH, Tanaka H, Perwad F, Zhang L, Chen CY, Theodore-Oklota C, Mealiffe M, San Martin J, Carpenter TO; AXLES 1 Investigators. Insogna KL, et al. Among authors: lachmann rh. J Bone Miner Res. 2018 Aug;33(8):1383-1393. doi: 10.1002/jbmr.3475. Epub 2018 Jun 26. J Bone Miner Res. 2018. PMID: 29947083 Free article. Clinical Trial.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. Hughes DA, et al. Among authors: lachmann r. J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. J Med Genet. 2017. PMID: 27834756 Free PMC article. Clinical Trial.
Phenylketonuria in adults: what do we know?
Lachmann R, Langeveld M. Lachmann R, et al. Am J Clin Nutr. 2024 Apr;119(4):870-871. doi: 10.1016/j.ajcnut.2024.01.023. Epub 2024 Feb 1. Am J Clin Nutr. 2024. PMID: 38296030 No abstract available.
Benefit of burosumab in adults with X-linked hypophosphataemia (XLH) is maintained with long-term treatment.
Kamenicky P, Briot K, Brandi ML, Cohen-Solal M, Crowley RK, Keen R, Kolta S, Lachmann RH, Lecoq AL, Ralston SH, Walsh JS, Rylands AJ, Williams A, Sun W, Nixon A, Nixon M, Javaid MK. Kamenicky P, et al. Among authors: lachmann rh. RMD Open. 2023 Feb;9(1):e002676. doi: 10.1136/rmdopen-2022-002676. RMD Open. 2023. PMID: 36854566 Free PMC article. Clinical Trial.
211 results