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Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
Brennenstuhl H, Nashawi M, Schröter J, Baronio F, Beedgen L, Gleich F, Jeltsch K, von Landenberg C, Martini S, Simon A, Thiel C, Tsiakas K, Opladen T, Kölker S, Hoffmann GF, Haas D; Unified Registry for Inherited Metabolic Disorders (U-IMD) Consortium and the European Registry for Hereditary Metabolic Disorders (MetabERN). Brennenstuhl H, et al. Among authors: baronio f. J Inherit Metab Dis. 2021 Sep;44(5):1272-1287. doi: 10.1002/jimd.12412. Epub 2021 Jun 28. J Inherit Metab Dis. 2021. PMID: 34145613
Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia.
Righi B, Ali SR, Bryce J, Tomlinson JW, Bonfig W, Baronio F, Costa EC, Guaragna-Filho G, T'Sjoen G, Cools M, Markosyan R, Bachega TASS, Miranda MC, Iotova V, Falhammar H, Ceccato F, Stancampiano MR, Russo G, Daniel E, Auchus RJ, Ross RJ, Ahmed SF. Righi B, et al. Among authors: baronio f. Endocrine. 2023 Jun;80(3):630-638. doi: 10.1007/s12020-023-03330-w. Epub 2023 Mar 1. Endocrine. 2023. PMID: 36857009 Free PMC article.
Editorial: Bone health and development in children and adolescents.
Baronio F, Baptista F. Baronio F, et al. Front Endocrinol (Lausanne). 2022 Dec 12;13:1101403. doi: 10.3389/fendo.2022.1101403. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36578952 Free PMC article. No abstract available.
Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.
Candela E, Zagariello M, Di Natale V, Ortolano R, Righetti F, Assirelli V, Biasucci G, Cassio A, Pession A, Baronio F. Candela E, et al. Among authors: baronio f. Children (Basel). 2023 Feb 17;10(2):396. doi: 10.3390/children10020396. Children (Basel). 2023. PMID: 36832525 Free PMC article.
113 results