Vitamin B6 deficiency with normal plasma levels of pyridoxal 5′-phosphate in perinatal hypophosphatasia
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Patient of the Month- Denise K.
Hi! I’m Denise and I was diagnosed with childhood-onset hypophosphatasia (HPP) at age 50. As a child, I remember that all my permanent teeth…
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced cofactor pyridoxal 5 phosphate availability
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Ryan’s Story
We are all told to stay away from “Dr. Google”; however, in the case of our son’s diagnosis of Hypophosphatasia (HPP), we were glad that…
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