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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

276 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.
Scarpa M, Almássy Z, Beck M, Bodamer O, Bruce IA, De Meirleir L, Guffon N, Guillén-Navarro E, Hensman P, Jones S, Kamin W, Kampmann C, Lampe C, Lavery CA, Teles EL, Link B, Lund AM, Malm G, Pitz S, Rothera M, Stewart C, Tylki-Szymańska A, van der Ploeg A, Walker R, Zeman J, Wraith JE; Hunter Syndrome Europena Expert Council. Scarpa M, et al. Orphanet J Rare Dis. 2011 Nov 7;6:72. doi: 10.1186/1750-1172-6-72. Orphanet J Rare Dis. 2011. PMID: 22059643 Free PMC article.
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study.
Borgwardt L, Dali CI, Fogh J, Månsson JE, Olsen KJ, Beck HC, Nielsen KG, Nielsen LH, Olsen SO, Riise Stensland HM, Nilssen O, Wibrand F, Thuesen AM, Pearl T, Haugsted U, Saftig P, Blanz J, Jones SA, Tylki-Szymanska A, Guffon-Fouiloux N, Beck M, Lund AM. Borgwardt L, et al. J Inherit Metab Dis. 2013 Nov;36(6):1015-24. doi: 10.1007/s10545-013-9595-1. Epub 2013 Mar 14. J Inherit Metab Dis. 2013. PMID: 23494656 Clinical Trial.
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.
Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CE. Biegstraaten M, et al. Orphanet J Rare Dis. 2015 Mar 27;10:36. doi: 10.1186/s13023-015-0253-6. Orphanet J Rare Dis. 2015. PMID: 25885911 Free PMC article.
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
Muenzer J, Jones SA, Tylki-Szymańska A, Harmatz P, Mendelsohn NJ, Guffon N, Giugliani R, Burton BK, Scarpa M, Beck M, Jangelind Y, Hernberg-Stahl E, Larsen MP, Pulles T, Whiteman DAH. Muenzer J, et al. Orphanet J Rare Dis. 2017 May 2;12(1):82. doi: 10.1186/s13023-017-0635-z. Orphanet J Rare Dis. 2017. PMID: 28464912 Free PMC article. Review.
276 results