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Article

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

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2016

Thodi Georgia, Schulpis Kleopatra H, Dotsikas Yannis, Pavlides Christiane, Molou Elina, Chatzidaki Maria, Triantafylli Olga, Loukas Yannis L

Abstract excerpt

BACKGROUND: Hawkinsinuria is a rare inborn error of tyrosine metabolism. OBJECTIVES: To study novel hawkinsinuria cases by monitoring their biochemical profile and conducting a mutation analysis. 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...

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Source

Identifiers

PMID: 26226126
DOI: 10.1515/jpem-2015-0132

Genes

HPD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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