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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Vydáno v:Metabolites
Hlavní autoři: Pieragostino, Damiana, Cicalini, Ilaria, Di Michele, Silvia, Fusilli, Paola, Cotugno, Giovanna, Ferrante, Rossella, Bucci, Ines, Dionisi-Vici, Carlo, Stuppia, Liborio, De Laurenzi, Vincenzo, Rossi, Claudia
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7074497/
https://ncbi.nlm.nih.gov/pubmed/31991569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/metabo10020044
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