Uniprot: P07902

OMIM: Entry 230400

Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.41 Heilbronn: SPS Verlagsgesellschaft

DAWSON SP, HICKMAN RO, KELLEY VC: Galactosemia. A genetic study of four generations by enzyme assay. Am J Dis Child. 1960 Jul;100:69-73.

Ashino J, Okano Y, Suyama I, Yamazaki T, Yoshino M, Furuyama J, Lin HC, Reichardt JK, Isshiki G: Molecular characterization of galactosemia (type 1) mutations in Japanese. Hum Mutat. 1995;6(1):36-43. doi: 10.1002/humu.1380060108.

Elsas LJ, Langley S, Steele E, Evinger J, Fridovich-Keil JL, Brown A, Singh R, Fernhoff P, Hjelm LN, Dembure PP: Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet. 1995 Mar;56(3):630-9.

Elsas LJ 2nd, Lai K: The molecular biology of galactosemia. Genet Med. 1998 Nov-Dec;1(1):40-8. doi: 10.1097/00125817-199811000-00009.

Los E, Ford GA: Galactose 1 Phosphate Uridyltransferase Deficiency (Galactosemia)

Tang M, Siddiqi A, Witt B, Yuzyuk T, Johnson B, Fraser N, Chen W, Rascon R, Yin X, Goli H, Bodamer OA, Lai K: Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model. Eur J Hum Genet. 2014 Oct;22(10):1172-9. doi: 10.1038/ejhg.2014.12. Epub 2014 Feb 19.

Lehninger, A.L. Lehninger principles of biochemistry (4th ed.)  (2005). New York: W.H Freeman.

Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.

Tsuji S, Martin BM, Kaslow DC, Migeon BR, Choudary PV, Stubbleflied BK, Mayor JA, Murray GJ, Barranger JA, Ginns EI: Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A. Eur J Biochem. 1987 Jun 1;165(2):275-80. doi: 10.1111/j.1432-1033.1987.tb11438.x.

Kornreich R, Desnick RJ, Bishop DF: Nucleotide sequence of the human alpha-galactosidase A gene. Nucleic Acids Res. 1989 Apr 25;17(8):3301-2. doi: 10.1093/nar/17.8.3301.

Oeltjen JC, Liu X, Lu J, Allen RC, Muzny D, Belmont JW, Gibbs RA: Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. Mamm Genome. 1995 May;6(5):334-8.

Hoefsloot LH, Hoogeveen-Westerveld M, Kroos MA, van Beeumen J, Reuser AJ, Oostra BA: Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex. EMBO J. 1988 Jun;7(6):1697-704.

Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA: Characterization of the human lysosomal alpha-glucosidase gene. Biochem J. 1990 Dec 1;272(2):493-7. doi: 10.1042/bj2720493.

Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R: Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences. DNA Cell Biol. 1990 Mar;9(2):85-94. doi: 10.1089/dna.1990.9.85.