Monthly Archives: February 2020

Anna Violet’s journey to a peroxisomal disorder diagnosis | GFPD 2020 Patient Ambassador

Our family’s journey to receiving Anna Violet’s diagnosis took approximately three months, but time moves...

Types of peroxisomal disorders: peroxisomal biogenesis disorders and single enzyme protein deficienc

Most peroxisomal disorders are rare, genetic (autosomal recessive) conditions that are often terminal and affect...

A diagnostic odyssey | How does a patient receive a diagnosis of a peroxisomal disorder?

A patient with either type of peroxisomal disorder (peroxisomal biogenesis disorder or single enzyme protein...