Rare cases of galactose metabolic disorders: identification of more than two mutations per patient

Kleopatra H Schulpis; Georgia Thodi; Maria Chatzidaki; Konstantinos Iakovou; Elina Molou; Yannis Dotsikas; Yannis L Loukas

doi:10.1515/jpem-2017-0263

Rare cases of galactose metabolic disorders: identification of more than two mutations per patient

J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1119-1120. doi: 10.1515/jpem-2017-0263.

Authors

Kleopatra H Schulpis¹, Georgia Thodi¹, Maria Chatzidaki¹, Konstantinos Iakovou¹, Elina Molou¹, Yannis Dotsikas¹, Yannis L Loukas¹

Affiliation

¹ .

PMID: 28902631
DOI: 10.1515/jpem-2017-0263

No abstract available

Keywords: Duarte; galactokinase (GALK); galactose-1-phosphate uridylyltransferase (GALT); galactosemia; mutations; uridine diphosphate galactose-4-epimerase (GALE).

Publication types

Letter

MeSH terms

Galactokinase / genetics*
Galactose / metabolism
Galactosemias / diagnosis*
Galactosemias / genetics
Galactosemias / metabolism
Humans
Infant, Newborn
Mutation
Neonatal Screening
UDPglucose 4-Epimerase / genetics*
UTP-Hexose-1-Phosphate Uridylyltransferase / genetics*

Substances

Galactokinase
UTP-Hexose-1-Phosphate Uridylyltransferase
UDPglucose 4-Epimerase
Galactose