A Case of Classical Galactosaemia presenting with Fanconi syndrome

dc.contributor.author	Kankananarachchi, I.
dc.contributor.author	Munasinghe, T. M.
dc.contributor.author	Naotunna, C.
dc.contributor.author	Dharmawardena, H.
dc.contributor.author	Hewawitharana, G.
dc.contributor.author	Atapattu, N.
dc.contributor.author	Amarasena, S.
dc.date.accessioned	2023-05-25T04:15:13Z
dc.date.available	2023-05-25T04:15:13Z
dc.date.issued	2019-04-12
dc.identifier.uri	http://ir.lib.ruh.ac.lk/xmlui/handle/iruor/12854
dc.description.abstract	Galactosaemia is a rare autosomal recessive metabolic disorder with the prevalence of 1;60000. Classical Galactosaemia (CG) is the most common variant of Galactosaemia and which is due to deficiency of Galactose-1-phosphate Uridyltransferace enzyme. Fanconi Syndrome (FS) is a rare presentation of CG. Here we present a baby girl with CG presenting with FS, which led to a diagnostic difficulty.	en_US
dc.language.iso	en	en_US
dc.publisher	Faculty of Medicine, University of Ruhuna, Galle, Sri Lanka	en_US
dc.title	A Case of Classical Galactosaemia presenting with Fanconi syndrome	en_US
dc.type	Article	en_US