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3. Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations. Schmidt D; Shin YS; Auw-Haedrich C; Tacke U Acta Ophthalmol; 2011 Aug; 89(5):489-94. PubMed ID: 20222886 [TBL] [Abstract][Full Text] [Related]
4. [Galactosemia]. Grodzka Z; Zbieg-Sendecka E Probl Med Wieku Rozwoj; 1979; 8():70-6. PubMed ID: 263529 [TBL] [Abstract][Full Text] [Related]
5. Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients. Nijland R; Hartog FE; Wevers RA; Wanders RJ; Willemsen WN J Pediatr Adolesc Gynecol; 2009 Aug; 22(4):229-31. PubMed ID: 19646668 [TBL] [Abstract][Full Text] [Related]
6. Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus. Benson PF; Brandt NJ; Christensen E; Fensom AH Clin Genet; 1979 Nov; 16(5):311-6. PubMed ID: 519903 [TBL] [Abstract][Full Text] [Related]
7. Familial occurrence of renal and Müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay. Davee MA; Moore CA; Bull MJ; Hodes ME Am J Med Genet; 1992 Oct; 44(3):293-6. PubMed ID: 1283287 [TBL] [Abstract][Full Text] [Related]
8. Prenatal and postnatal diagnostic difficulties in a family with rare alleles of the galactose-1-phosphate uridyl transferase locus. Christensen E; Brandt NJ J Inherit Metab Dis; 1978; 1(4):167-9. PubMed ID: 117252 [TBL] [Abstract][Full Text] [Related]
9. Molecular analysis of the anti-Müllerian hormone, the anti-Müllerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer-Rokitansky-Küster-Hauser syndrome. Zenteno JC; Carranza-Lira S; Kofman-Alfaro S Arch Gynecol Obstet; 2004 May; 269(4):270-3. PubMed ID: 15221321 [TBL] [Abstract][Full Text] [Related]
10. Nested polymerase chain reaction--not ready for gold standard status yet! Alvarez-Nava F; Soto M; Fernández E; Zenteno JC Fertil Steril; 2004 Nov; 82(5):1471; author reply 1471-2. PubMed ID: 15533387 [No Abstract] [Full Text] [Related]
11. Problems in the diagnosis of transferase and galactokinase deficient galactosemia. Pesce MA; Bodourian SH Ann Clin Lab Sci; 1980; 10(1):26-32. PubMed ID: 7362195 [TBL] [Abstract][Full Text] [Related]
12. [Galactose 1-phosphate level in children with various types of hexosephosphate uridylyltransferase deficiency]. Grodzka Z; Zbieg-Sendecka E; Mańkowski T Pediatr Pol; 1985 Sep; 60(9):631-7. PubMed ID: 3008074 [No Abstract] [Full Text] [Related]
13. Biochemical studies of a human low-activity galactose-1-phosphate uridyl transferase variant. Ng WG; Kline F; Lin J; Koch R; Donnell GN J Inherit Metab Dis; 1978; 1(4):145-51. PubMed ID: 117249 [TBL] [Abstract][Full Text] [Related]
14. Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies. Urioste M; Rodríguez JI; Barcia JM; Martín M; Escribá R; Pardo M; Camino J; Martínez-Frías ML Am J Med Genet; 1993 Sep; 47(4):494-503. PubMed ID: 8256813 [TBL] [Abstract][Full Text] [Related]
15. Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Küster-Hauser syndrome. Plevraki E; Kita M; Goulis DG; Hatzisevastou-Loukidou H; Lambropoulos AF; Avramides A Fertil Steril; 2004 Mar; 81(3):689-92. PubMed ID: 15037423 [TBL] [Abstract][Full Text] [Related]
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