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

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

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…