New approach in the diagnosis and therapy of hyperphenylalaninemia
Background. Phenylketonuria is the most prevalent inborn error of aminoacid metabolism. Is an autosomal recessive disorder. It results from mutations in the phenylalanine hydroxilase (PAH) gene. Phenotypes can vary from mild hyperphenylalaninemia to a severe phenylketonuria wich, if untreated, resu...
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| Format: | Doctoral Thesis |
| Language: | it |
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Alma Mater Studiorum - Università di Bologna
2012
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| Online Access: | http://amsdottorato.unibo.it/4593/ |