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Case Reports
. 2003;26(1):75-9.
doi: 10.1023/a:1024039916476.

Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G)

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Case Reports

Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G)

W G Ng et al. J Inherit Metab Dis. 2003.

Abstract

We report two unrelated cases of adult galactosaemia females with normal ovarian function and Q188R/R333G mutations. Clinical history has been followed for 40 years. Biochemical finding in one patient are consistent with the presence of small amounts of galactose-1-phosphate uridyltransferase (GALT) activity, which differs from classical galactosaemia.

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