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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Among authors: guimaraes mj. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
The inter-rater reliability of IHS4 corroborates its aptitude as primary outcome measurement instrument for large clinical studies in hidradenitis suppurativa.
Zouboulis CC, Hrvatin Stancic B, Abaitancei A, Guimarães MJ, Lobo IL, Massa AF, Nikolakis G, Nogueira MO, Özdemir AO, Pirogova A, Prens EP, Szepietowski JC, Tusheva I, Tzellos T, Zouboulis VA. Zouboulis CC, et al. Among authors: guimaraes mj. J Eur Acad Dermatol Venereol. 2024 Feb;38(2):e185-e187. doi: 10.1111/jdv.19525. Epub 2023 Oct 4. J Eur Acad Dermatol Venereol. 2024. PMID: 37728531 No abstract available.
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