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Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design. [PDF]

Hum Genomics
Karaca M, Gedikbasi A, Selamioğlu A, Yesil A, Toksoy G, Gulec C, Balci MC, Güneş D, Yıldırım BT, Kına G, Karaman V, Aslanger AD, Karaman B, Demirkol M, Uyguner ZO, Gokcay GF.   +15 more
europepmc   +1 more source

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PERSISTENT HYPERPHENYLALANINEMIA

Acta Paediatrica, International Journal of Paediatrics, 1972
F, Güttler, E, Wamberg
exaly   +3 more sources

The Utility of Genomic Testing for Hyperphenylalaninemia

Journal of Clinical Medicine, 2022
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.
Sebastiano Cavallaro
exaly   +2 more sources

Hyperphenylalaninemia: From Diagnosis to Therapy

Journal of Pediatric Biochemistry, 2016
Hyperphenylalaninemia (HPA) is a biochemical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine (Phe) in the blood. HPA is commonly diagnosed by newborn screening.
Vincenzo Salpietro, Ruggieri M, Italia Mascaro   +2 more
exaly   +2 more sources