Identification of five mutations in a patient with galactose metabolic disorders

J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):221-222. doi: 10.1515/jpem-2017-0438.

¹ Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.
² Laboratory of Prenatal and Neonatal Screening, Neoscreen Ltd., Athens, Greece.
³ Laboratory of Pharm. Analysis, Department of Pharmacy, National and Kapodestrian University of Athens, Athens, Greece.
⁴ Laboratory of Pharm. Analysis, Department of Pharmacy, National and Kapodestrian University of Athens, Panepistimiopolis Zographou, 157 71, Athens, Greece, Phone: +30 210 7274224, Fax: +30 211 1826131.

No abstract available

Keywords: GALE; GALK; galactosemia; mutations; newborn screening.

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