Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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 23
2013 13
2014 11
2015 18
2016 9
2017 7
2018 17
2019 8
2020 17
2021 18
2022 17
2023 12
2024 14

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

231 results

Results by year

Filters applied: . Clear all
Page 1
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.
Population screening requires robust evidence-genomics is no exception.
Turnbull C, Firth HV, Wilkie AOM, Newman W, Raymond FL, Tomlinson I, Lachmann R, Wright CF, Wordsworth S, George A, McCartney M, Lucassen A. Turnbull C, et al. Among authors: lachmann r. Lancet. 2024 Feb 10;403(10426):583-586. doi: 10.1016/S0140-6736(23)02295-X. Epub 2023 Dec 6. Lancet. 2024. PMID: 38070525 Review. No abstract available.
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.
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
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.
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.
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR. Germain DP, et al. Among authors: lachmann rh. J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795794 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.
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.
When to suspect inherited metabolic diseases.
Shribman S, Lachmann RH. Shribman S, et al. Among authors: lachmann rh. Pract Neurol. 2024 Sep 13;24(5):354-356. doi: 10.1136/pn-2024-004113. Pract Neurol. 2024. PMID: 38960598 No abstract available.
231 results