Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience.
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| Title: | Benefits and pitfalls in newborn screening for carnitine uptake deficiency: a 4-year single-center experience. |
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| Authors: | Turturo M; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy., Rossi A; Department of Translational Medicine, Section of Pediatrics, University of Naples 'Federico II', Via Sergio Pansini 5, Naples, 80131, Italy. alessandro.rossi@unina.it., Barretta F; CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy., Albano L; CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy., Crisci D; CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy., Vallone F; CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy., Uomo F; CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy., Fecarotta S; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy., Alagia M; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy., Strisciuglio P; Department of Translational Medicine, Section of Pediatrics, University of Naples 'Federico II', Via Sergio Pansini 5, Naples, 80131, Italy., Parenti G; Department of Translational Medicine, Section of Pediatrics, University of Naples 'Federico II', Via Sergio Pansini 5, Naples, 80131, Italy., Frisso G; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy., Ruoppolo M; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Biotecnologie Avanzate s.c.ar.l, Naples, Italy. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Nov 28; Vol. 21 (1). Date of Electronic Publication: 2025 Nov 28. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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