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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. Among authors: lampe c. 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.
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Herzog A, Hartung R, Reuser AJ, Hermanns P, Runz H, Karabul N, Gökce S, Pohlenz J, Kampmann C, Lampe C, Beck M, Mengel E. Herzog A, et al. Among authors: lampe c. Orphanet J Rare Dis. 2012 Jun 7;7:35. doi: 10.1186/1750-1172-7-35. Orphanet J Rare Dis. 2012. PMID: 22676651 Free PMC article.
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
Langereis EJ, Borgo A, Crushell E, Harmatz PR, van Hasselt PM, Jones SA, Kelly PM, Lampe C, van der Lee JH, Odent T, Sakkers R, Scarpa M, Schafroth MU, Struijs PA, Valayannopoulos V, White KK, Wijburg FA. Langereis EJ, et al. Among authors: lampe c. Orphanet J Rare Dis. 2013 Oct 3;8:155. doi: 10.1186/1750-1172-8-155. Orphanet J Rare Dis. 2013. PMID: 24088413 Free PMC article. Review.
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Parini R, Broomfield A, Cleary MA, De Meirleir L, Di Rocco M, Fathalla WM, Guffon N, Lampe C, Lund AM, Scarpa M, Tylki-Szymańska A, Zeman J. Parini R, et al. Among authors: lampe c. Acta Paediatr. 2018 Dec;107(12):2059-2065. doi: 10.1111/apa.14587. Epub 2018 Oct 23. Acta Paediatr. 2018. PMID: 30242902 Free PMC article. Review.
110 results