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Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.
Balsamo A, Baronio F, Ortolano R, Menabo S, Baldazzi L, Di Natale V, Vissani S, Cassio A. Balsamo A, et al. Among authors: ortolano r. Front Pediatr. 2020 Dec 22;8:593315. doi: 10.3389/fped.2020.593315. eCollection 2020. Front Pediatr. 2020. PMID: 33415088 Free PMC article. Review.
Letter to the Editors: Concerning "Divergent clinical outcomes of alphaglucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state" by Takashi M et al.
Ortolano R, Baronio F, Masetti R, Prete A, Cassio A, Pession A. Ortolano R, et al. Mol Genet Metab Rep. 2017 Mar 7;11:1. doi: 10.1016/j.ymgmr.2017.02.003. eCollection 2017 Jun. Mol Genet Metab Rep. 2017. PMID: 28316933 Free PMC article. No abstract available.
A genetic epidemiology study of congenital adrenal hyperplasia in Italy.
Gialluisi A, Menabò S, Baldazzi L, Casula L, Meloni A, Farci MC, Mariotti S, Balestrino L, Ortolano R, Murru S, Carcassi C, Loche S, Balsamo A, Romeo G. Gialluisi A, et al. Among authors: ortolano r. Clin Genet. 2018 Feb;93(2):223-227. doi: 10.1111/cge.13078. Epub 2017 Oct 17. Clin Genet. 2018. PMID: 28644547
Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis.
Ljubicic ML, Jørgensen A, Acerini C, Andrade J, Balsamo A, Bertelloni S, Cools M, Cuccaro RT, Darendeliler F, Flück CE, Grinspon RP, Maciel-Guerra A, Guran T, Hannema SE, Lucas-Herald AK, Hiort O, Holterhus PM, Lichiardopol C, Looijenga LHJ, Ortolano R, Riedl S, Ahmed SF, Juul A. Ljubicic ML, et al. Among authors: ortolano r. J Clin Endocrinol Metab. 2019 Oct 1;104(10):4366-4381. doi: 10.1210/jc.2018-02752. J Clin Endocrinol Metab. 2019. PMID: 31127831
Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis".
Ljubicic ML, Jørgensen A, Ribeiro de Andrade JG, Balsamo A, Bertelloni S, Cools M, Cuccaro RT, Darendeliler F, Flück CE, Grinspon RP, Maciel-Guerra A, Guran T, Hannema SE, Lucas-Herald AK, Hiort O, Holterhus PM, Lichiardopol C, Looijenga LHJ, Ortolano R, Riedl S, Ahmed SF, Juul A. Ljubicic ML, et al. Among authors: ortolano r. J Clin Endocrinol Metab. 2019 Dec 1;104(12):5812-5813. doi: 10.1210/jc.2019-01413. J Clin Endocrinol Metab. 2019. PMID: 31276168 No abstract available.
Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?
Medda E, Vigone MC, Cassio A, Calaciura F, Costa P, Weber G, de Filippis T, Gelmini G, Di Frenna M, Caiulo S, Ortolano R, Rotondi D, Bartolucci M, Gelsomino R, De Angelis S, Gabbianelli M, Persani L, Olivieri A. Medda E, et al. Among authors: ortolano r. J Clin Endocrinol Metab. 2019 Dec 1;104(12):5765-5779. doi: 10.1210/jc.2019-00900. J Clin Endocrinol Metab. 2019. PMID: 31287502
37 results