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154 results

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Page 1
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: barone r. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Editorial: Women in psychiatry 2022: autism.
Barone R, Colombi C. Barone R, et al. Front Psychiatry. 2023 May 15;14:1208163. doi: 10.3389/fpsyt.2023.1208163. eCollection 2023. Front Psychiatry. 2023. PMID: 37255679 Free PMC article. No abstract available.
Editorial: Women in psychiatry 2021: Autism.
Barone R, Colombi C. Barone R, et al. Front Psychiatry. 2022 Dec 15;13:1090395. doi: 10.3389/fpsyt.2022.1090395. eCollection 2022. Front Psychiatry. 2022. PMID: 36590611 Free PMC article. No abstract available.
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Pajusalu S, Vals MA, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Bérat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E, Õunap K. Pajusalu S, et al. Among authors: barone r. Hum Mutat. 2024 Oct 3;2024:8813121. doi: 10.1155/2024/8813121. eCollection 2024. Hum Mutat. 2024. PMID: 40225925 Free PMC article.
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.
Jáñez Pedrayes A, De Craemer S, Idkowiak J, Verdegem D, Thiel C, Barone R, Serrano M, Honzík T, Morava E, Vermeersch P, Foulquier F, Morelle W, Swinnen JV, Rymen D, Cassiman D, Ghesquière B, Witters P. Jáñez Pedrayes A, et al. Among authors: barone r. Cell Mol Life Sci. 2025 Jun 27;82(1):257. doi: 10.1007/s00018-025-05759-w. Cell Mol Life Sci. 2025. PMID: 40576648 Free PMC article.
Editorial: Women in psychiatry 2025: autism.
Colombi C, Barone R. Colombi C, et al. Among authors: barone r. Front Psychiatry. 2026 Aug 18;17:1963459. doi: 10.3389/fpsyt.2026.1963459. eCollection 2026. Front Psychiatry. 2026. PMID: 42682818 Free PMC article. No abstract available.
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. Lam C, et al. Among authors: barone r. Mol Genet Metab. 2024 Aug;142(4):108509. doi: 10.1016/j.ymgme.2024.108509. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38959600 Free PMC article.
154 results