A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy

Methylmalonic Acidurias (MMAs) are a group of inborn errors of metabolism (IEMs), specifically of propionate catabolism characterized by gastrointestinal and neurometabolic manifestations resulting from a deficiency in the function of methylmalonyl-CoA mutase, methylmalonyl-CoA epimerase, and cobala...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Int J Environ Res Public Health
Κύριοι συγγραφείς: Rossi, Claudia, Cicalini, Ilaria, Rizzo, Cristiano, Zucchelli, Mirco, Consalvo, Ada, Valentinuzzi, Silvia, Semeraro, Daniela, Gasparroni, Giorgia, Brindisino, Patrizia, Gazzolo, Diego, Dionisi-Vici, Carlo, De Laurenzi, Vincenzo, Pieragostino, Damiana
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: MDPI 2020
Θέματα:
Case Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7277087/
https://ncbi.nlm.nih.gov/pubmed/32443888
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijerph17103601
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