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Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study

Classic galactosaemia is an inherited metabolic disorder of galactose metabolism caused by deficiency of the enzyme galactose‐1‐phosphate uridyltransferase (GALT) resulting from mutations in the GALT gene. The objectives of the present study were the determination of the carrier frequency of classic...

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Detalles Bibliográficos
Autores principales:	Papachristoforou, Rena, Petrou, Petros P., Sawyer, Hilary, Williams, Maggie, Drousiotou, Anthi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6766971/ https://www.ncbi.nlm.nih.gov/pubmed/30994193 http://dx.doi.org/10.1111/ahg.12318

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