A case report of classic galactosemia with a GALT gene variant and a literature review
Abstract Background Galactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe manifestation of classic galactosemia is caused by galactose-1-phosphate uridylyltransferase (GALT) deficiency, and this condition can be fatal duri...
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| Main Authors: | , , , , , |
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| Format: | Book |
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BMC,
2024-05-01T00:00:00Z.
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