BARONIO, FEDERICO

BARONIO, FEDERICO  

DIPARTIMENTO DI SCIENZE GINECOLOGICHE, OSTETRICHE E PEDIATRICHE  

Mostra records
Risultati 1 - 20 di 51 (tempo di esecuzione: 0.081 secondi).
Titolo Autore(i) Anno Periodico Editore Tipo File
A Case of Acrodermatitis Dysmetabolica in a Child Affected by Citrullinemia Type I: When Early Diagnosis and Timely Treatment Are Not Enough Bruni L.; Cassio A.; Di Natale V.; Baronio F.; Ortolano R.; Pession A.; Piraccini B.M.; Neri I. 2023-01-01 CHILDREN - 1.01 Articolo in rivista -
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, Egidio; Zagariello, Michele; Di Natale, Valeria; Ortolano, Rita; Righetti, Francesca; As...sirelli, Valentina; Biasucci, Giacomo; Cassio, Alessandra; Pession, Andrea; Baronio, Federico 2023-01-01 CHILDREN - 1.01 Articolo in rivista children-10-00396.pdf
Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis Baronio F.; Conti F.; Miniaci A.; Carfagnini F.; Di Natale V.; Di Donato G.; Testi M.; Totaro C.;... De Fanti A.; Boenzi S.; Dionisi-Vici C.; Esposito S.; Pession A. 2022-01-01 MOLECULAR GENETICS AND METABOLISM REPORTS - 1.01 Articolo in rivista main.pdf
Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report Aiello, Francesca; Pasquali, Daniela; Baronio, Federico; Cassio, Alessandra; Rossi, Cesare; Di Fr...aia, Rosa; Carotenuto, Raffaela; Digitale, Lucia; Festa, Adalgisa; Luongo, Caterina; Maltoni, Giulio; Schiano di Cola, Roberta; Del Giudice, Emanuele Miraglia; Grandone, Anna 2022-01-01 JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM - 1.01 Articolo in rivista -
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria Brennenstuhl H.; Nashawi M.; Schroter J.; Baronio F.; Beedgen L.; Gleich F.; Jeltsch K.; von Land...enberg C.; Martini S.; Simon A.; Thiel C.; Tsiakas K.; Opladen T.; Kolker S.; Hoffmann G.F.; Haas D.; Garcia-Cazorla A.; Dionisi-Vici C.; Martinelli D.; Kozich V.; Scarpa M. 2021-01-01 JOURNAL OF INHERITED METABOLIC DISEASE - 1.01 Articolo in rivista 2021 JIMD.pdfjimd12412-sup-0001-supinfo.docx
Prevalence and ultrasound patterns of testicular adrenal rest tumors in adults with congenital adrenal hyperplasia Corcioni B.; Renzulli M.; Marasco G.; Baronio F.; Gambineri A.; Ricciardi D.; Ortolano R.; Farina... D.; Gaudiano C.; Cassio A.; Pagotto U.; Golfieri R. 2021-01-01 TRANSLATIONAL ANDROLOGY AND UROLOGY - 1.01 Articolo in rivista tau-10-02-562.pdftau-10-02-562-rc.zip
Quando non trascurare la splenomegalia nel lattante un insegnamento dalla pratica clinica Zama D.; Parladori R.; Muratore E.; Melchionda F.; Baronio F.; Pession A. 2021-01-01 MEDICO E BAMBINO - 1.01 Articolo in rivista -
Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background Caletti M.T.; Bettocchi I.; Baronio F.; Brodosi L.; Cataldi S.; Petroni M.L.; Cassio A.; Marchesi...ni G. 2020-01-01 NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES - 1.01 Articolo in rivista -
46, XX DSD due to androgen excess in monogenic disorders of steroidogenesis: Genetic, biochemical, and clinical features Federico Baronio, Rita Ortolano, Soara Menabò, Alessandra Cassio, Lilia Baldazzi, Valeria Di Nata...le, Giacomo Tonti, Benedetta Vestrucci, Antonio Balsamo 2019-01-01 INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - 1.01 Articolo in rivista 46,XX DSD.pdfijms-20-04605-s001.pdf
Carnitine longitudinal pattern in preterm infants <1800 g body weight: a case–control study Baronio F.; Righi B.; Righetti F.; Bettocchi I.; Ortolano R.; Faldella G.; Rondelli R.; Pession A....; Cassio A. 2019-01-01 PEDIATRIC RESEARCH - 1.01 Articolo in rivista -
Severe hypercholesterolaemia in a paediatric patient with congenital analbuminaemia D'Addato, S; Fogacci, F; Cicero, A F G; Palmisano, S; Baronio, F; Biagi, C; Borghi, C 2019-01-01 NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES - 1.01 Articolo in rivista -
X-linked hypophosphatemic rickets: An Italian experts' opinion survey Emma F.; Cappa M.; Antoniazzi F.; Bianchi M.L.; Chiodini I.; Eller Vainicher C.; Di Iorgi N.; Mag...hnie M.; Cassio A.; Balsamo A.; Baronio F.; De Sanctis L.; Tessaris D.; Baroncelli G.I.; Mora S.; Brandi M.L.; Weber G.; D'Ausilio A.; Lanati E.P. 2019-01-01 THE ITALIAN JOURNAL OF PEDIATRICS - 1.01 Articolo in rivista X-linked rickets.pdf
Congenital hypothyroidism (CH): the re-evaluation of diagnosis in CH patients with in situ gland identified by newborn screening Rita Ortolano, Maria Bitelli, Federico Baronio, Alessandra Cassio 2018-01-01 - Lowell T. Duncan, Nova Science Publishers 2.01 Capitolo / saggio in libro -
Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX) Lilia Baldazzi, Soara Menabo', Federico Baronio, Rita Ortolano,
Alessandra Cassio, Laura Mazzant...
i, Antonio Balsamo
2016-01-01 HORMONE RESEARCH IN PAEDIATRICS - 1.06 Abstract in rivista -
Comment on "complete androgen insensitivity syndrome: optimizing diagnosis and management" Balsamo, Antonio; Baronio, Federico; Berra, Marta; Bertelloni, Silvano; D'Alberton, Franco; Marro...cco, Giacinto; Vallasciani, Santiago 2014-01-01 CASE REPORTS IN OBSTETRICS AND GYNECOLOGY - 1.04 Replica / breve intervento (e simili) -
Comparison between Liquid and Tablet Formulations of Levothyroxine in the Initial Treatment of Congenital Hypothyroidism Cassio A.; Monti S.; Rizzello A.; Bettocchi I.; Baronio F.; D'Addabbo G.; Bal M.O.; Balsamo A. . 2013-01-01 THE JOURNAL OF PEDIATRICS - 1.01 Articolo in rivista -
Beta-ketothiolase (T2) deficiency detected with newborn screening (NBS) I.Bettocchi; F.Baronio; A.Martini; M.Bal; A.Marsigli; A.Cassio 2012-01-01 JOURNAL OF INHERITED METABOLIC DISEASE - 4.02 Riassunto (Abstract) -
Fanconi-Bickel syndrome: a mild form associated with GLUT2 mutation F.Baronio; R.Santer; I.Bettocchi; C.Graziano; J.Bergmann; M.Bal; D.Rinaldini; A.Cassio 2012-01-01 JOURNAL OF INHERITED METABOLIC DISEASE - 4.02 Riassunto (Abstract) -
Hemophagocytic lymphohistiocytosis and lysinuric protein intolerance:case report F.Baronio; ME. Cantarini; M.Bal; AL.Martini; I.Bettocchi; A.Pession; A.Cassio 2012-01-01 JOURNAL OF INHERITED METABOLIC DISEASE - 4.02 Riassunto (Abstract) -
Molecular characterization to predict tetrahydrobiopterin (BH4) responsiveness in phenylalanine hydroxylase (PAH) deficiency I.Bettocchi; A.Nicoletti; F.Baronio; S.Monti; A.Rizzello; L.Baldazzi; A.Cassio; A.Pession; M.Bal 2012-01-01 JOURNAL OF INHERITED METABOLIC DISEASE - 4.02 Riassunto (Abstract) -