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Classical galactosemia in a Thai infant: case report and review of the literature


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Timson DJ. The structural and molecular biology of type III galactosemia. IUBMB Life. 2006; 58:83-9.10.1080/1521654060064484616611573TimsonDJ.The structural and molecular biology of type III galactosemiaIUBMB Life.20065883916611573Open DOISearch in Google Scholar

Broomfield AA, Brain C, Grunewald S. Galactosaemia an update. J Paediatr Child Health. 2011; 21:65-70.10.1016/j.paed.2010.10.003BroomfieldAABrainCGrunewaldS.Galactosaemia an updateJ Paediatr Child Health.2011216570Open DOISearch in Google Scholar

Berry GT. Galactosemia: when is it a newborn screening emergency? Mol Genet Metab. 2012; 106: 7-11.10.1016/j.ymgme.2012.03.00722483615BerryGT.Galactosemia: when is it a newborn screening emergency?Mol Genet Metab.201210671122483615Open DOISearch in Google Scholar

Bosch AM. Classical galactosaemia revisited. J Inherit Metab Dis. 2006; 29:516-25.10.1007/s10545-006-0382-016838075BoschAM.Classical galactosaemia revisitedJ Inherit Metab Dis.2006295162516838075Open DOISearch in Google Scholar

Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA. Clinical features of galactokinase deficiency: a review of the literature. J Inherit Metab Dis. 2002; 25:629-34.12705493BoschAMBakkerHDvan GennipAHvan KempenJVWandersRJWijburgFA.Clinical features of galactokinase deficiency: a review of the literatureJ Inherit Metab Dis.2002256293410.1023/A:1022875629436Search in Google Scholar

Leslie ND. Insights into the pathogenesis of galactosemia. Annu Rev Nutr. 2003; 23:59-80.1270421910.1146/annurev.nutr.23.011702.073135LeslieND.Insights into the pathogenesis of galactosemiaAnnu Rev Nutr.200323598012704219Search in Google Scholar

Cheung KL, Tang NL, Hsiao KJ, Law LK, Wong W, Ng PC, et al. Classical galactosaemia in Chinese: a case report and review of disease incidence. J Paediatr Child Health. 1999; 35:399-400.10.1046/j.1440-1754.1999.00373.xCheungKLTangNLHsiaoKJLawLKWongWNgPCClassical galactosaemia in Chinese: a case report and review of disease incidenceJ Paediatr Child Health.19993539940028871650Open DOISearch in Google Scholar

Wasant P. Organising services for IMD in Thailand: twenty years experience. Ann Acad Med Singapore. 2008; 37:117-3.19904472WasantP.Organising services for IMD in Thailand: twenty years experienceAnn Acad Med Singapore.2008371173Search in Google Scholar

Wasant P, Matsumoto I, Liammongkolkul S. Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry. Southeast Asian J Trop Med Pub Health. 1999; 30:160-5.WasantPMatsumotoILiammongkolkulS.Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometrySoutheast Asian J Trop Med Pub Health.1999301605Search in Google Scholar

Wasant P, Svasti J, Srisomsap C, Liammongkolkul S. Inherited metabolic disorders in Thailand. J Med Assoc Thai. 2002; 85:S700-9.12403250WasantPSvastiJSrisomsapCLiammongkolkulS.Inherited metabolic disorders in ThailandJ Med Assoc Thai.200285S7009Search in Google Scholar

Boonyawat B, Kamolsilp M, Phavichitr N. Galactosemia in Thai patient at Phramongkutklao Hospital: a case report. J Med Assoc Thai. 2005; 88: S275-80.BoonyawatBKamolsilpMPhavichitrN.Galactosemia in Thai patient at Phramongkutklao Hospital: a case reportJ Med Assoc Thai.200588S27580Search in Google Scholar

Siripunthana S, Sahakitrungruang T, Washarasindhu S, Suphapeetiporn K, Supornsilchai V. A discordant of blood glucose analysed by Glucometer and the Central lab method in an infant with Galactosemia. J Pediatr Endocrin. 2013; 2013:1.SiripunthanaSSahakitrungruangTWasharasindhuSSuphapeetipornKSupornsilchaiV.A discordant of blood glucose analysed by Glucometer and the Central lab method in an infant with GalactosemiaJ Pediatr Endocrin.20132013110.1186/1687-9856-2013-S1-P178Search in Google Scholar

Medline A, Medline NM. Galactosemia: early structural changes in the liver. Can Med Assoc J. 1972; 107:877-8.4653934MedlineAMedlineNM.Galactosemia: early structural changes in the liverCan Med Assoc J.19721078778Search in Google Scholar

Gareth P. Jevon JED. Metabolic Disorders in Childhood. In: Pierre Russo EDR, David A. Piccoli, editor. Pathology of Pediatric Gastrointestinal and Liver Disease: Springer Science & Business Media; 2004. p. 270-99.GarethP.Jevon JED. Metabolic Disorders in ChildhoodPierreRusso EDRDavidA. PiccoliPathology of Pediatric Gastrointestinal and Liver Disease: Springer Science & Business Media20042709910.1007/978-1-4419-9066-2_12Search in Google Scholar

Ramesh S, Krishnan BR. Galactosemia. Indian Pediatr. 1991; 28:789-91.1800354RameshSKrishnanBR.GalactosemiaIndian Pediatr.19912878991Search in Google Scholar

Waggoner DD, Buist NR, Donnell GN. Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis. 1990; 13:802-18.170678910.1007/BF01800204WaggonerDDBuistNRDonnellGN.Long-term prognosis in galactosaemia: results of a survey of 350 casesJ Inherit Metab Dis.199013802181706789Search in Google Scholar

Ridel KR, Leslie ND, Gilbert DL. An updated review of the long-term neurological effects of galactosemia. Pediatr Neurol. 2005; 33:153-61.10.1016/j.pediatrneurol.2005.02.01516087312RidelKRLeslieNDGilbertDL.An updated review of the long-term neurological effects of galactosemiaPediatr Neurol.2005331536116087312Open DOISearch in Google Scholar

Vandenplas Y, De Greef E, Devreker T, Hauser B. Soy infant formula: is it that bad? Acta Paediatr. 2011; 100: 162-6.10.1111/j.1651-2227.2010.02021.x20860705VandenplasYDe GreefEDevrekerTHauserB.Soy infant formula: is it that bad?Acta Paediatr.2011100162620860705Open DOISearch in Google Scholar

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