Pages that link to "Q40673805"

The following pages link to Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency (Q40673805):

Displaying 5 items.

• Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. (Q35220708) (← links)
• Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis (Q37878680) (← links)
• A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency (Q43758112) (← links)
• Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review (Q47136044) (← links)
• Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. (Q54499768) (← links)