Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic forms of the disease
Titel:
Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic forms of the disease
Auteur:
Chabás, Amparo Gort, Laura Díaz-Font, Anna Montfort, Magdalena Santamaría, Raül Cidrás, Manuel Grinberg, Daniel Vilageliu, Lluïsa