Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G)
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)...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2003-07, Vol.26 (1), p.75-79 |
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| container_end_page | 79 |
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| container_title | Journal of inherited metabolic disease |
| container_volume | 26 |
| creator | Ng, W. G. Xu, Y‐K. Wong, L‐J. Kaufman, F. R. Buist, N. R. M. Donnell, G. N. |
| description | 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. |
| doi_str_mv | 10.1023/A:1024039916476 |
| format | Article |
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G.</au><au>Xu, Y‐K.</au><au>Wong, L‐J.</au><au>Kaufman, F. R.</au><au>Buist, N. R. M.</au><au>Donnell, G. N.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G)</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>2003-07</date><risdate>2003</risdate><volume>26</volume><issue>1</issue><spage>75</spage><epage>79</epage><pages>75-79</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><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.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>12872845</pmid><doi>10.1023/A:1024039916476</doi><tpages>5</tpages></addata></record> |
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| ispartof | Journal of inherited metabolic disease, 2003-07, Vol.26 (1), p.75-79 |
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| source | MEDLINE; Wiley Journals; SpringerLink Journals - AutoHoldings |
| subjects | Adult Biological and medical sciences DNA - genetics Errors of metabolism Female Galactosemias - genetics Humans Medical sciences Metabolic diseases Middle Aged Miscellaneous hereditary metabolic disorders Mutation - genetics Ovary - physiology Reverse Transcriptase Polymerase Chain Reaction Uridine Diphosphate Galactose - metabolism Uridine Diphosphate Glucose - metabolism |
| title | Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G) |
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