A molecular approach to galactosemia

Author:

Elsas Louis J.,Langley Sharon,Paulk Elizabeth M.,Hjelm Lawrence N.,Dembure Philip P.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Reference30 articles.

1. Beutler E (1973) Screening for galactosemia: Studies of the gene frequencies for galactosemia and the Duarte allele. Israel J Med Sci 9: 1323–1329

2. Beutler E, Baluda ML, Sturgeon P, Day RW (1965) A new genetic abnormality resulting in galactose-1-phosphate uridyl transferase deficiency. Lancet I: 353–355

3. Beutler E, Baluda MC, Sturgeon P, Day R (1966) The genetics of galactose-1-phosphate uridyl transferase deficiency. J Lab Clin Med 64: 646–658

4. Donnell GN, Collado M, Koch R (1961) Psychoeducational findings among children treated for phenylketonuria. J Pediatr 58: 836–844

5. Elsas LJ, Dembure PP, Langley S, Paulk EM, Hjelm LN, Fridovich-Keil (1994) A common mutation associated with the Duarte Galactosemia allele. Am J Hum Genet 54: 1030–1036

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