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1.
Butyrylcarnitine Elevation in Newborn Screening: Reducing False Positives and Distinguishing between Two Rare Diseases through the Evaluation of New Ratios.
Biomedicines
; 11(12)2023 Dec 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-38137468
2.
New ratio as a useful marker for early diagnosis of proximal urea cycle disorders.
Clin Chim Acta
; 520: 154-159, 2021 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-34116006
3.
Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency.
Int J Neonatal Screen
; 6(3)2020 Jul 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-33239584
4.
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily.
Int J Neonatal Screen
; 4(2): 12, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-33072938
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