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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

419 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage.
Linthorst GE, Burlina AP, Cecchi F, Cox TM, Fletcher JM, Feldt-Rasmussen U, Giugliani R, Hollak CE, Houge G, Hughes D, Kantola I, Lachmann R, Lopez M, Ortiz A, Parini R, Rivera A, Rolfs A, Ramaswami U, Svarstad E, Tondel C, Tylki-Szymanska A, Vujkovac B, Waldek S, West M, Weidemann F, Mehta A. Linthorst GE, et al. Among authors: rolfs a. JIMD Rep. 2013;8:51-6. doi: 10.1007/8904_2012_160. Epub 2012 Jul 14. JIMD Rep. 2013. PMID: 23430520 Free PMC article.
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Lenders M, Hennermann JB, Kurschat C, Rolfs A, Canaan-Kühl S, Sommer C, Üçeyler N, Kampmann C, Karabul N, Giese AK, Duning T, Stypmann J, Krämer J, Weidemann F, Brand SM, Wanner C, Brand E. Lenders M, et al. Among authors: rolfs a. Orphanet J Rare Dis. 2016 Jun 29;11(1):88. doi: 10.1186/s13023-016-0473-4. Orphanet J Rare Dis. 2016. PMID: 27356758 Free PMC article.
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.
Vieira P, Cameron J, Rahikkala E, Keski-Filppula R, Zhang LH, Santra S, Matthews A, Myllynen P, Nuutinen M, Moilanen JS, Rodenburg RJ, Rolfs A, Uusimaa J, van Karnebeek CDM. Vieira P, et al. Among authors: rolfs a. Mol Genet Metab. 2017 Apr;120(4):337-341. doi: 10.1016/j.ymgme.2017.02.003. Epub 2017 Feb 6. Mol Genet Metab. 2017. PMID: 28216384
Enzyme enhancers for the treatment of Fabry and Pompe disease.
Lukas J, Pockrandt AM, Seemann S, Sharif M, Runge F, Pohlers S, Zheng C, Gläser A, Beller M, Rolfs A, Giese AK. Lukas J, et al. Among authors: rolfs a. Mol Ther. 2015 Mar;23(3):456-64. doi: 10.1038/mt.2014.224. Epub 2014 Nov 20. Mol Ther. 2015. PMID: 25409744 Free PMC article.
A rare manifestation of Fabry's disease.
Nagy ZF, Bencsik K, Rajda C, Morvay M, Husz S, Vörös E, Rolfs A, Honti V, Dobozy A, Vécsei L. Nagy ZF, et al. Among authors: rolfs a. Swiss Med Wkly. 2007 Feb 24;137(7-8):130. doi: 10.4414/smw.2007.11649. Swiss Med Wkly. 2007. PMID: 17370152 Free article. No abstract available.
419 results