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

por Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D'Aco, Kristin
Publicado 2015

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

por D’Aco, Kristin, Underhill, Lisa, Rangachari, Lakshmi, Arn, Pamela, Cox, Gerald F., Giugliani, Roberto, Okuyama, Torayuki, Wijburg, Frits, Kaplan, Paige
Publicado 2012