| 1 | GALT, GALTD
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| Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
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| Carney AE, Sanders RD, Garza KR, McGaha LA, Bean LJ, Coffee BW, Thomas JW, Cutler DJ, Kurtkaya NL, Fridovich-Keil JL.
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| Hum Mol Genet 18(9):1624-32. Epub 2009 Feb 18.
2009
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| 2 | GALT, GALTD
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| Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency.
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| Feillet F, Merten M, Battaglia-Hsu SF, Rabier D, Kobayashi K, Straczek J, Brivet M, Favre E, Guéant JL.
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| J Hepatol 48(3):517-22. Epub 2007 Dec 31.PMID: 18207281 2008
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| 3 | GALT, GALTD
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| Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract.
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| Karas N, Gobec L, Pfeifer V, Mlinar B, Battelino T, Lukac-Bajalo J.
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| J Inherit Metab Dis 26(7):699-704. 2003
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| 4 | GALT, GALTD
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| Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.
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| Tyfield L, Reichardt J, Fridovich-Keil J, Croke DT, Elsas LJ, Strobl W, Kozak L,Coskun T, Novelli G, Okano Y, Zekanowski C, Shin Y, Boleda MD.
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| Hum Mutat 13 : 417-430. 1999
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| 5 | GALT, GALTD
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| Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in japanese patients.
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| Hirokawa H, et al.
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| Eur J Hum Genet 7(7):757-64 1999
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| 6 | GALT, GALTD
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| Molecular and biochemical basis of galactosemia.
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| Wang BBT, et al.
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| Mol Genet Metab 63 : 263-269. 1998
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| 7 | GALT, GALTD
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| Molecular basis for Duarte and Los Angeles variant galactosemia.
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| Langley SD, et al.
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| Am J Hum Genet 60 : 366-372. 1997
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| 8 | GALT, GALTD
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| Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
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| Greber-Platzer S, Guldberg P, Scheibenreiter S, Item C, Schuller E, Patel N, Strobl W.
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| Hum Mutat 10(1):49-57. 1997
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| 9 | GALT, GALTD
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| Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.
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| Shin YS, et al.
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| Eur J Pediatr 155 : 393-397. 1996
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| 10 | GALT, GALTD
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| Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.
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| Maceratesi P, et al.
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| Hum Mutat 8 : 369-372. 1996
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| 11 | GALT, GALTD
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| Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.
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| Podskarbi T, et al.
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| J Inherit Metab Dis 19 : 638-644. 1996
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| 12 | GALT, GALTD
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| Galactosemia : a strategy to identify new biochemical phenotypes and molecular genotypes.
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| Elsas LJ, et al.
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| Am J Hum Genet 56 : 630-639. 1995
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| 13 | GALT, GALTD
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| Identification and functional analysis of three distinct mutations in the human galactose-I-phosphate uridyltransferase gene associated with galactosemia in a single family.
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| Fridovich-Keil JL, et al.
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| Am J Hum Genet 56 : 640-646. 1995
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| 14 | GALT, GALTD
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| Molecular characterization of galactosemia (type 1) mutations in Japanese.
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| Ashino J, et al.
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| Hum Mutat 6 : 36-43. 1995
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| 15 | GALT, GALTD
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| A common mutation associated with the duarte galactosemia allele.
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| Elsas LJ, et al.
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| Am J Hum Genet 54 : 1030-1036. 1994
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| 16 | GALT, GALTD
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| Biochemical and molecular studies of 132 patients with galactosemia.
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| Ng WG, et al.
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| Hum Genet 94 : 359-363. 1994
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| 17 | GALT, GALTD
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| Galactosemia caused by a point mutation that activates cryptic donor splice site in the galactose-1-phosphate uridyltransferase gene.
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| Wadelius C, et al.
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| Genomics 17 : 525-526. 1993
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| 18 | GALT, GALTD
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| Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase : different molecular mechanisms for galactosemia.
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| Reichardt JKV, et al.
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| Genomics 12 : 596-600. 1992
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| 19 | GALT, GALTD
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| Molecular characterization of two galactosemia mutations and one polymorphism : implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.
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| Reichardt JKV, et al.
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| Biochemistry 31 : 5430-5433. 1992
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| 20 | GALT, GALTD
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| A new genetic abnormality resulting in galactose-1-phosphate uridyl transferase deficiency.
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| Beutler E, et al.
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| Lancet I : 353-354. 1965
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