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Year Number of Results
2002 2
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2011 4
2012 8
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126 results

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Page 1
Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.
Holubova V, Barone R, Grunewald S, Tesařová M, Hansíková H, Augustínová J, Sykut-Cegielska J, De Nictolis F, Diaz-Moreno U, Elangovan R, Epifani F, Gasperini S, Jansen M, Lefeber D, Maksym-Gasiorek D, Diego M, Ounap K, Pettinato F, Põder H, Rymen D, Vals MA, Serrano M, Witters P, Honzík T. Holubova V, et al. Among authors: barone r. J Inherit Metab Dis. 2024 Dec 5. doi: 10.1002/jimd.12826. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 39633515
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
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA : Report of a new patient and review of the literature.
Teutonico F, Volpe C, Proto A, Costi I, Cavallari U, Doneda P, Iascone M, Sturiale L, Barone R, Martinelli S, Vignoli A. Teutonico F, et al. Among authors: barone r. Neurogenetics. 2024 Jul;25(3):281-286. doi: 10.1007/s10048-024-00754-y. Epub 2024 Mar 18. Neurogenetics. 2024. PMID: 38498292 Review.
CSF N-Glycomics Using MALDI MS Techniques.
Messina A, Romeo DA, Barone R, Sturiale L, Palmigiano A, Zappia M, Garozzo D. Messina A, et al. Among authors: barone r. Methods Mol Biol. 2024;2785:49-65. doi: 10.1007/978-1-0716-3774-6_4. Methods Mol Biol. 2024. PMID: 38427187
126 results