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

16 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.
Blomqvist M, Smeland MF, Lindgren J, Sikora P, Riise Stensland HMF, Asin-Cayuela J. Blomqvist M, et al. Among authors: riise stensland hmf. Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3):a003954. doi: 10.1101/mcs.a003954. Print 2019 Jun. Cold Spring Harb Mol Case Stud. 2019. PMID: 30886116 Free PMC article.
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, König R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, Schweiger B, Steehouwer M, Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Lüdecke HJ, Wieczorek D. Voigt C, et al. Among authors: riise stensland hm. Orphanet J Rare Dis. 2013 Jul 24;8:110. doi: 10.1186/1750-1172-8-110. Orphanet J Rare Dis. 2013. PMID: 23879989 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. Among authors: riise stensland hm. 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.
16 results