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Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations.

作者信息

Gorial Faiq I, Mohammed Maab Jasim

机构信息

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

Rheumatology Unit, Baghdad Teaching Hospital, Baghdad, Iraq.

出版信息

Mediterr J Rheumatol. 2019 Jun 29;30(2):123-124. doi: 10.31138/mjr.30.2.123. eCollection 2019 Jun.

Abstract

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.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b6c4/7045964/c9dc6cdff243/MJR-30-2-123-g001.jpg

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本文引用的文献

1
The molecular basis of galactosemia - Past, present and future.
Gene. 2016 Sep 10;589(2):133-41. doi: 10.1016/j.gene.2015.06.077. Epub 2015 Jul 2.
3
Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.
Hum Mutat. 2007 Oct;28(10):939-43. doi: 10.1002/humu.20544.
4
Bone metabolism in galactosemia.
Bone. 2004 Oct;35(4):982-7. doi: 10.1016/j.bone.2004.06.004.
5
Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia.
J Pediatr. 1993 Sep;123(3):365-70. doi: 10.1016/s0022-3476(05)81733-0.

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