Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
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)

W G Ng  1 , Y K Xu, L J Wong, F R Kaufman, N R M Buist, G N Donnell
Affiliations
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.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

References

    1. Clin Chim Acta. 1995 Aug 31;240(1):21-33 - PubMed
    1. J Inherit Metab Dis. 1999 Feb;22(1):37-42 - PubMed
    1. J Pediatr. 1994 Aug;125(2):225-7 - PubMed
    1. Clin Chim Acta. 1991 Nov 9;203(1):23-34 - PubMed
    1. Pediatrics. 1984 Mar;73(3):309-12 - PubMed

Publication types

LinkOut - more resources