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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. 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.
Glycogen Storage Disease Type I and Bone: Clinical and Cellular Characterization.
Vai S, Falchetti A, Corbetta S, Bianchi ML, Alberio C, Carrara S, Gasperini S, Pretese R, Parisi L, Teti A, Maurizi A. Vai S, et al. Among authors: gasperini s. Calcif Tissue Int. 2024 Nov;115(5):661-672. doi: 10.1007/s00223-024-01302-4. Epub 2024 Oct 25. Calcif Tissue Int. 2024. PMID: 39453459 Free PMC article.
"Relapsing-Remitting" Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency.
Gana S, Rossetto G, Garau J, Vacchini V, Ferraro F, Rognone E, Pichiecchio A, Gasperini S, Valente EM, Orcesi S. Gana S, et al. Among authors: gasperini s. Mov Disord Clin Pract. 2024 Nov;11(11):1454-1457. doi: 10.1002/mdc3.14190. Epub 2024 Aug 14. Mov Disord Clin Pract. 2024. PMID: 39140302 Free PMC article. No abstract available.
A global initiative for ecological and evolutionary hologenomics.
Leonard A; Earth Hologenome Initiative Consortium; Alberdi A. Leonard A, et al. Trends Ecol Evol. 2024 Jul;39(7):616-620. doi: 10.1016/j.tree.2024.03.005. Epub 2024 May 21. Trends Ecol Evol. 2024. PMID: 38777633 Free article.
160 results