Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience

3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is a metabolic disorder with a wide clinical spectrum ranging from asymptomatic individuals to severe metabolic decompensation. Following the introduction of expanded newborn screening, a high number of asymptomatic individuals with 3-MCCD were id...

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Egile Nagusiak:	Vincenza Gragnaniello, Giacomo Gaiga, Chiara Cazzorla, Elena Porcù, Daniela Gueraldi, Andrea Puma, Christian Loro, Mara Doimo, Leonardo Salviati, Alberto B. Burlina
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	MDPI AG 2025-12-01
Saila:	International Journal of Neonatal Screening
Gaiak:	3-methylcrotonyl-CoA carboxylase deficiency newborn screening tandem mass spectrometry long-term follow-up clinical outcome metabolic decompensation
Sarrera elektronikoa:	https://www.mdpi.com/2409-515X/11/4/115
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