DemirbasDCoelhoAIRubio-GozalboME, et al. Hereditary galactosemia. Metabolism. 2018;83:188-196.
2.
KoloshaVAnoiaEde CespedesC, et al. Novel mutations in 13 probands with galactokinase deficiency. Hum Mutat. 2000;15(5):447-453.
3.
WadaYKikuchiAArai-IchinoiN, et al. Biallelic GALM pathogenic variants cause a novel type of galactosemia. Genet Med. 2019;21:1286-1294.
4.
Teke KisaPKoseMUnalO, et al. Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey. J Pediatr Endocrinol Metab. 2019;32:675-681.
5.
Rubio-GozalboMEDerksBDasAM, et al. Galactokinase deficiency: lessons from the GalNet registry. Genet Med. 2021;23:202-210.
6.
BoschAMBakkerHDvan GennipAH, et al. Clinical features of galactokinase deficiency: a review of the literature. J Inherit Metab Dis. 2003;25:629-634.
7.
StambolianDAiYSidjaninD, et al. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nat Genet. 1995;10(3):307-312.
8.
HunterMAngelichevaDLevyHLPueschelSMKalaydjievaL. Novel mutations in theGALK1gene in patients with galactokinase deficiency. Hum Mutat. 2001;17(1):77-78.
9.
KavehmaneshZTorkamanMBeiraghdarF. A case of classic galactosemia manifesting as neonatal early and profound indirect hyperbilirubinemia. Turk Pediatri Ars. 2020;55(3):316-319.
10.
AiYZhengZO’Brien-JenkinsA, et al. A mouse model of galactose-induced cataracts. Hum Mol Genet. 2000;9:1821-1827.
11.
HennermannJBSchadewaldtPVetterBShinYSMönchEKleinJ. Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. J Inherit Metab Dis. 2011;34(2):399-407.
12.
SinghRRamJKaurGPrasadR. Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene. Curr Eye Res. 2012;37(10):949-954.
13.
BrattonSCantuRMSternM. Breast milk jaundice. Treasure Island, FL: StatPearls Publishing; 2021.
14.
PyhtilaBMShawKANeumannSE, et alNewborn screening for galactosemia in the united states: looking back, looking around, and looking ahead. In: JIMD Reports. SpringerBerlin, Heidelberg; 2015:79–93.
Supplementary Material
Please find the following supplemental material available below.
For Open Access articles published under a Creative Commons License, all supplemental material carries the same license as the article it is associated with.
For non-Open Access articles published, all supplemental material carries a non-exclusive license, and permission requests for re-use of supplemental material or any part of supplemental material shall be sent directly to the copyright owner as specified in the copyright notice associated with the article.
