The Utility of Genomic Testing for Hyperphenylalaninemia

Hyperphenylalaninemia (HPA), the most common amino acid metabolism disorder, is caused by defects in enzymes involved in phenylalanine metabolism, with the consequent accumulation of phenylalanine and its secondary metabolites in body fluids and tissues. Clinical manifestations of HPA include mental...

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Detalles Bibliográficos
Autores principales: Tendi, Elisabetta Anna, Guarnaccia, Maria, Morello, Giovanna, Cavallaro, Sebastiano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8879487/
https://www.ncbi.nlm.nih.gov/pubmed/35207333
http://dx.doi.org/10.3390/jcm11041061

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8879487/
https://www.ncbi.nlm.nih.gov/pubmed/35207333
http://dx.doi.org/10.3390/jcm11041061

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