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

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1980 1
1992 2
1993 1
1994 1
1996 1
1997 3
1998 1
1999 4
2000 2
2001 2
2002 3
2003 4
2004 6
2005 3
2006 3
2007 4
2008 8
2009 6
2010 13
2011 8
2012 7
2013 7
2014 8
2015 4
2016 4
2017 5
2018 3
2019 5
2020 4
2021 5
2022 4
2023 4
2024 1

Text availability

Article attribute

Article type

Publication date

PubMed for id: 4598

120 results

Results by year

Filters applied: . Clear all
Page 1
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Brennenstuhl H, Nashawi M, Schröter J, Baronio F, Beedgen L, Gleich F, Jeltsch K, von Landenberg C, Martini S, Simon A, Thiel C, Tsiakas K, Opladen T, Kölker S, Hoffmann GF, Haas D; Unified Registry for Inherited Metabolic Disorders (U-IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN). Brennenstuhl H, et al. J Inherit Metab Dis. 2021 Sep;44(5):1272-1287. doi: 10.1002/jimd.12412. Epub 2021 Jun 28. J Inherit Metab Dis. 2021. PMID: 34145613
Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome.
Govindaraj GM, Jain A, Peethambaran G, Bhoyar RC, Vellarikkal SK, Ganapati A, Sandhya P, Edavazhippurath A, Dhanasooraj D, Puthenpurayil JM, Chakkiyar K, Mishra A, Batra A, Punnen A, Kumar S, Sivasubbu S, Scaria V. Govindaraj GM, et al. PLoS One. 2020 Aug 21;15(8):e0237999. doi: 10.1371/journal.pone.0237999. eCollection 2020. PLoS One. 2020. PMID: 32822427 Free PMC article.
The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.
Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, Cattalini M, Anton J, Modesto C, Quartier P, Hoppenreijs E, Martino S, Insalaco A, Cantarini L, Lepore L, Alessio M, Calvo Penades I, Boros C, Consolini R, Rigante D, Russo R, Pachlopnik Schmid J, Lane T, Martini A, Ruperto N, Frenkel J, Gattorno M; Paediatric Rheumatology International Trials Organisation and Eurofever Project. Ter Haar NM, et al. Arthritis Rheumatol. 2016 Nov;68(11):2795-2805. doi: 10.1002/art.39763. Arthritis Rheumatol. 2016. PMID: 27213830 Free article.
120 results