Laboratory

JIM 2025; 2 (3): e1005
DOI: 10.61012_20258_1005

The effects of neonatal nutrition on 17-α-hydroxyprogesterone levels in classic congenital adrenal hyperplasia screening: a retrospective study

Tommolini M. L.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy
maria.tommolini@unich.it Close
ORCID , Frisco A.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Zucchelli M.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Di Carlo G.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Natale L.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Petruccioli R.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Semeraro D.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Verrocchio S.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Foley D.
Waters Corporation, Wilmslow, United Kingdom Close
, Chiavaroli V.
U.O.C. Neonatal Intensive Care Unit, S. Spirito Hospital, ASL Pescara, Pescara, Italy Close
ORCID , Di Valerio S.
U.O.C. Neonatal Intensive Care Unit, S. Spirito Hospital, ASL Pescara, Pescara, Italy Close
ORCID , Cicalini I.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Cufaro M. C.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Valentinuzzi S.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID

JIM 2025; 2 (2): e920
DOI: 10.61012_20255_920

Advancing newborn screening in Spain: a consensus-based proposal for a uniform panel

García-Villoria J.
Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, IDIBAPS, CIBERER, Barcelona, Spain
jugarcia@clinic.cat Close
ORCID , Delgado-Pecellín C.
Clinical Biochemistry Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Sevilla (IBiS/CSIC), Sevilla, Spain Close
, López R. M.
Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, IDIBAPS, CIBERER, Barcelona, Spain Close
, González-Lamuño D.
Department of Medical and Surgery Sciences, School of Medicine-IDIVAL, Universidad de Cantabria-Hospital M. Valdecilla, Santander, Spain
domingo.gonzalez-lamuno@unican.es Close
ORCID , On behalf of the Neonatal Screening Study Group of AECOM
The members of the Neonatal Screening Study Group of AECOM are presented in the Authors’ Contributions section Close

JIM 2025; 2 (1): e705
DOI: 10.61012_20252_705

A multidisciplinary biochemical and genetic approach for the diagnosis of congenital adrenal hyperplasia: a pediatric case

Ranaudo M.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
, Dell’Elice A.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
, Navicella A.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy
aurora.navicella@studenti.unich.it Close
, Minelli M.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
, Tommolini M. L.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Zucchelli M.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Ferrante R.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Mohn A.
Department of Pediatrics, G. D’Annunzio University of Chieti-Pescara, Chieti, Italy Close
ORCID , Gatta V.
Center for Advanced Studies and Technology (CAST), “G. D’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID

JIM 2024; 1 (4): e630
DOI: 10.61012_202411_630

Galactosemia: insights into newborn screening strategies

Verrocchio S.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy
sara.verrocchio@unich.it Close
ORCID , Semeraro D.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID , Cicalini I.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID , Valentinuzzi S.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID , Tommolini M. L.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID , Cufaro M. C.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID , Ferrante R.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID , Bucci I.
Center for Advanced Studies and Technologies (CAST), "G. d'Annunzio" University of Chieti-Pescara, Chieti, Italy Close
ORCID

JIM 2024; 1 (3): e590
DOI: 10.61012_20248_590

Potential approaches for the treatment of Marinesco–Sjögren syndrome

Viele M.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Ruggieri A. G.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Bellia F.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Potenza F.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Amodei L.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Sallese M.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy
michele.sallese@unich.it Close
ORCID

JIM 2024; 1 (1): e456
DOI: 10.61012_20242_456

Second-tier tests do not always require chromatographic separation: the case of hydroxylated and dicarboxylic acyl-carnitine couples

Valentinuzzi S.
Center for Advanced Studies and Technology (CAST), Chieti, Italy
silvia.valentinuzzi@unich.it Close
ORCID , Tommolini M. L.
Center for Advanced Studies and Technology (CAST), Chieti, Italy Close
ORCID , Frisco A.
Center for Advanced Studies and Technology (CAST), Chieti, Italy Close
ORCID , Zucchelli M.
Center for Advanced Studies and Technology (CAST), Chieti, Italy Close
ORCID , Cicalini I.
Center for Advanced Studies and Technology (CAST), Chieti, Italy Close
ORCID , Cufaro M. C.
Center for Advanced Studies and Technology (CAST), Chieti, Italy Close
ORCID

Topic: Laboratory   Category:

Loading

FREE PDF DOWNLOAD
Downloaded 65 times