Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.

Abstract excerpt

A group of neonates with Gaucher disease with a particularly devastating clinical course is described. The phenotype of these infants is analogous to that of a Gaucher mouse, which was created by targeted disruption of the mouse glucocerebroside gene. Similar to the homozygous mutant mice with glucocerebrosidase deficiency, these infants present at or shortly after birth, have rapidly progressing fulminant...

Topics

• Animals
• Animals, Newborn
• Disease Models, Animal
• Gaucher Disease
• Glucosylceramidase
• Humans
• Hydrops Fetalis
• Ichthyosis
• Infant, Newborn
• Male
• Mice