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

Concepedia

Publication | Open Access

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

DOI Full Paper Access

15

Citations

5

References

2015

Year

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

Journal of Pediatric Endocrinology and Metabolism

Abstract

Two mutations of HPD gene, A33T, which are associated with hawkinsinuria and a novel one (V212M) were detected for the 1st time in Greek newborns.

References

	Year	Citations

Page 1