Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced cofactor pyridoxal 5 phosphate availability

My Journey with my Soft Bones: The only hint my parents had that something was wrong with me was my teeth. My baby teeth had…

They are identical mirror twins who overcame all odds to survive their arrival. Isabella & Julia were born at 35 weeks and 6 days. Brought…