Galactosemia

Urbanowski JC et al. (1982) Nonenzymatically galactosylated serum albumin in a galactosemic infant.

Elsevier JP et al. (1996) The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative.

Podskarbi T et al. (1996) Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

Ninfali P et al. (1996) Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.

Elsevier JP et al. (1996) Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferase.

Lai K et al. (1996) A prevalent mutation for galactosemia among black Americans.

Reichardt JK et al. (1993) Molecular characterization of the H319Q galactosemia mutation.

Schweitzer S et al. (1993) Long-term outcome in 134 patients with galactosaemia.

Elsas LJ et al. (1994) A common mutation associated with the Duarte galactosemia allele.

Elsas LJ et al. (1995) Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

Lin HC et al. (1995) Linkage disequilibrium between a SacI restriction fragment length polymorphism and two galactosemia mutations.

Ashino J et al. (1995) Molecular characterization of galactosemia (type 1) mutations in Japanese.

Levy HL et al. (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia.

Garcia-Cruz D et al. (1982) Tetrasomy 9p: clinical aspects and enzymatic gene dosage expression.

Robinson AC et al. (1984) Hypergonadotrophic hypogonadism in classical galactosaemia: evidence for defective oogenesis. Case report.

Andersen MW et al. (1983) Transferase-deficiency galactosemia: evidence for the lack of a transferase protein in galactosemic red cells.

Andersen MW et al. (1984) Transferase-deficiency galactosemia: immunochemical studies of the Duarte and Los Angeles variants.

Xu YK et al. (1983) Polymorphism of erythrocyte galactose-1-phosphate uridyltransferase among Chinese.

Kelley RI et al. (1983) Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing.

Dagna Bricarelli F et al. (1981) Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.

Eydoux P et al. (1981) Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination.

Sparkes RS et al. (1980) Expression of GALT in 9p chromosome alterations: assignment of GALT locus to 9cen leads to 9p22.

Mulcahy MT et al. (1980) Where is the gene for GALT?

Trbusek M et al. (2001) Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency.

Tang M et al. (2014) Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.

Carney AE et al. (2009) Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

Feillet F et al. (2008) Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.

None (2006) Classical galactosaemia revisited.

Segal S et al. (2006) Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose.

BEUTLER E et al. (1965) A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.

WALKER FA et al. (1962) Galactosemia: a study of twenty-seven kindreds in North America.

DAWSON SP et al. (1960) Galactosemia. A genetic study of four generations by enzyme assay.

Webb AL et al. (2003) Verbal dyspraxia and galactosemia.

Suzuki M et al. (2001) Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.

Tedesco TA et al. (1975) The genetic defect in galactosemia.

Elsas LJ et al. (2001) Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.

Elsas LJ et al. () The molecular biology of galactosemia.

Ruiz M et al. (1999) Galactosaemia presenting as congenital pseudoafibrinogenaemia.

de Jongh S et al. (1999) Spontaneous pregnancy in a patient with classical galactosaemia.

Murphy M et al. (1999) Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers.

Kozák L et al. (1999) Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles.

Tyfield L et al. (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

Magrangeas F et al. (1998) Cotranscription and intergenic splicing of human galactose-1-phosphate uridylyltransferase and interleukin-11 receptor alpha-chain genes generate a fusion mRNA in normal cells. Implication for the production of multidomain proteins during evolution.

Greber-Platzer S et al. (1997) Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

Langley SD et al. (1997) Molecular basis for Duarte and Los Angeles variant galactosemia.

Benson PF et al. (1979) Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.

Reichardt JK et al. (1991) Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

Reichardt JK et al. (1991) Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

Waggoner DD et al. (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases.

Reichardt JK et al. (1992) Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

Gitzelmann R et al. (1992) Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii.

Hammersen G et al. (1975) Rennes-like variant of galactosemia: clinical and biochemical studies.

Scherz R et al. (1976) A new genetic variant of galactose-1-phosphate uridyl transferase.

Sun NC et al. (1977) Regional chromosomal localization of the human gene for galactose-1-phosphate uridyltransferase.

Meera Khan P et al. (1978) Assignment of a human galactose-1-phosphate uridylyltransferase gene (GALT1) to chromosome 9 in human-Chinese hamster somatic cell hybrids.

Bruns GA et al. (1978) Expression of ACONS and GALT in man-rodent somatic cell hybrids.

Wharton CH et al. (1978) Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote.

Lang A et al. (1980) A new variant of galactosemia: galactose-1-phosphate uridylytransferase sensitive to product inhibition by glucose 1-phosphate.

Tedesco TA et al. (1979) Galactosemia: alterations in sulfate metabolism secondary to galactose-1-phosphate uridyltransferase deficiency.

Ibarra B et al. (1979) Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.

Levy HL et al. (1977) Sepsis due to Escherichia coli in neonates with galactosemia.

Mohandas T et al. (1979) Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

Mohandas T et al. (1977) Assignment of the human gene for galactose-1-phosphate uridyltransferase to chromosome 9: studies with Chinese hamster-human somatic cell hybrids.

Westerveld A et al. (1978) Regional localization of the genes coding for human red cell adenylate kinase, aconitase, and galactose-1-phosphate uridylyltransferase on chromosome 9.

Mohandas T et al. (1978) Assignment of GALT to chromosome 9 and regional localization of GALT, AK1, AK3, and ACONS on chromosome 9.

Litchfield WJ et al. (1978) Effect of galactose on free radical reactions of polymorphonuclear leukocytes.

Kaufman F et al. (1979) Ovarian failure in galactosaemia.

None (1979) Abstracts of meeting presentations.

Brivet M et al. (1989) Lens hexitols and cataract formation during lactation in a woman heterozygote for galactosaemia.

Sparkes RS et al. (1980) Probable linkage between the human galactose-1-P uridyl transferase locus and 9qh.

Eriksen B et al. (1980) Human red cell galactose-1-phosphate uridylyltransferase (EC 2.7.7.12). Electrophoretically determined polymorphism in Denmark and its use in paternity cases.

Shih LY et al. (1984) Gene dosage studies supporting localization of the structural gene for galactose-1-phosphate uridyl transferase (GALT) to band p13 of chromosome 9.

Vaccaro AM et al. (1984) Polymorphism of erythrocyte galactose-1-phosphate uridyl-transferase in Italy: segregation analysis in 693 families.

Cuatrecasas P et al. (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism.

Sparkes RS et al. (1968) Galactosemia in a 24-year-old man; detection by enzyme studies.

Gitzelmann R et al. (1967) Partial galactose-1-phosphate uridyltransferase deficiency due to a variant enzyme.

None (1967) Clinical variants of galactosemia.

Nadler HL et al. (1970) Interallelic complementation in hybrid cells derived from human diploid strains deficient in galactose-1-phosphate uridyl transferase activity.

Haschemian G et al. (1972) [A family with galactosemia and "Duarte variant"].

Kelly S et al. (1972) A Duarte variant with clinical signs.

Tedesco TA et al. (1971) Galactosemia: evidence for a structural gene mutation.

Shih VE et al. (1971) Galactosemia screening of newborns in Massachusetts.

Bergren WG et al. (1973) A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant.

Hill HZ et al. (1973) Detection of inborn errors of metabolism: galactosemia.

Sun NC et al. (1974) Chromosome assignment of the human gene for galactose-1-phosphate uridyltransferase.

Tedesco TA et al. (1974) Assignment of the human gene for hexose-1-phosphate uridylyltransferase to chromosome 3.

Harley JD et al. (1974) Maternal enzymes of galactose metabolism and the "inexplicable" infantile cataract.

Reichardt JK et al. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.

Brivet M et al. (1989) Effect of lactation in a mother with galactosemia.

Flach JE et al. (1990) Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

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