A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

Phenylketonuria (PKU) is a rare autosomal recessive condition affecting about 1 in 10,000 people in the Europe, with a higher rate in some countries, like Ireland and Italy. In Italy, newborn screening (NBS) by MS/MS allows the diagnostic suspicion of PKU and its variants (Hyperphenylalaninemia (HPA...

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Detalhes bibliográficos

Principais autores:	Damiana Pieragostino, Ilaria Cicalini, Silvia Di Michele, Paola Fusilli, Giovanna Cotugno, Rossella Ferrante, Ines Bucci, Carlo Dionisi-Vici, Liborio Stuppia, Vincenzo De Laurenzi, Claudia Rossi
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2020-01-01
coleção:	Metabolites
Assuntos:	phenylketonuria hyperphenylalaninemia inborn error of metabolism mass spectrometry metabolomics lc–ms/ms
Acesso em linha:	https://www.mdpi.com/2218-1989/10/2/44
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