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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