Title : Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment.

Pub. Date : 2016 Jan

PMID : 26226126






2 Functional Relationships(s)
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1 SUBJECTS AND METHODS: Among 92,519 newborns that underwent expanded newborn screening, two unrelated cases with high tyrosine blood levels were further investigated by chromatographic techniques and via genetic testing for 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Tyrosine 4-hydroxyphenylpyruvate dioxygenase Homo sapiens
2 SUBJECTS AND METHODS: Among 92,519 newborns that underwent expanded newborn screening, two unrelated cases with high tyrosine blood levels were further investigated by chromatographic techniques and via genetic testing for 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Tyrosine 4-hydroxyphenylpyruvate dioxygenase Homo sapiens