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Mediterr J Rheumatol 2019;30(2):123-4
Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations
Authors Information

1Rheumatology Unit, Department of Medicine, College of Medicine, University of Baghdad, Baghdad, Iraq

2Rheumatology Unit, Baghdad Teaching Hospital, Baghdad, Iraq

References
  1. Calderon FR, Phansalkar AR, Crockett DK, Miller M, Mao R. Mutation database for the galactose‐1‐phosphate uridyltransferase (GALT) gene. Hum Mutat 2007;28(10):939-43. [https://doi.org/10.1002/humu.20544] [PMID: 17486650]
  2. Hoffmann GF, McKiernan P. Liver disease. In: Inherited Metabolic Diseases 2017 (pp. 203-226). Springer, Berlin, Heidelberg.
  3. Vangala S, Tonelli A. Biomarkers, metabonomics, and drug development: can inborn errors of metabolism help in understanding drug toxicity? AAPS J 2007;;9(3):E284-97. [https://doi.org/10.1208/aapsj0903031] [PMID: 17915830] [PMCID: PMC2751476]
  4. Panis B, Forget PP, Van Kroonenburgh MJ, Vermeer C, Menheere PP, Nieman FH, et al. Bone metabolism in galactosemia. Bone 2004;35(4):982-7. [https://doi.org/10.1016/j.bone.2004.06.004] [PMID: 15454106]
  5. Timson DJ. The molecular basis of galactosemia—Past, present and future. Gene 2016;589(2):133-41. [https://doi.org/10.1016/j.gene.2015.06.077] [PMID: 26143117]
  6. Ngoenmak T, Somran J, Phuaksaman C, Khunrat J. Classical galactosemia in a Thai infant: case report and review of the literature. Asian Biomed 2015;9(1):95-100. [https://doi.org/10.5372/1905-7415.0806.375]
  7. Kaufman FR, Loro ML, Azen C, Wenz E, Gilsanz V. Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia. J Pediatr 1993;123(3):365-70. [PMID: 8355111]