Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia

Author:

Cocanougher Benjamin,Aypar Umut,McDonald Amber,Hasadsri Linda,Bennett Michael J.,Edward Highsmith W.,D׳Aco Kristin

Publisher

Elsevier BV

Subject

Multidisciplinary

Reference18 articles.

1. Galactosaemia;Fridovich-Keil,2008

2. Identification of novel mutations in classical galactosemia;Bosch;Hum. Mutat.,2005

3. Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease;Cocanougher;Mol. Genet. Metab. Rep.,2014

4. Galactosemia: symptomatic and asymptomatic homozygotes in one Negro sibship;Baker;J. Pediatr.,1966

5. The oxidation of C 14 galactose by patients with congenital galactosemia;Segal;Am. J. Med.,1968

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