Galactosemia is an autosomal recessive inherited disease of galactose metabolism. In this report, a galactosemia case with unusual presentation has been presented. We reported a child boy with galactosemia presented with arthralgia, hands deformity and decreased bone mineral density.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045964PMC
http://dx.doi.org/10.31138/mjr.30.2.123DOI Listing

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