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

Denise Goodbar May 28, 2021

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Categories: Scientific Publications

Tags: Encephalopathy, Epilepsy, Epileptic, perinatal, Pyridoxal-5-phosphate

Isabella and Julia

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

Taralyn Naslonski November 6, 2020

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Patient of the Month- Sharon M.

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…

emma_richter January 3, 2023

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Vitamin B6 deficiency with normal plasma levels of pyridoxal 5′-phosphate in perinatal hypophosphatasia

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Denise Goodbar May 18, 2021

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A fluorescent hydrazone exchange probe of pyridoxal phosphate for the assessment of vitamin B6 status†

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Denise Goodbar November 5, 2020

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The Emotional Effects of Living with a Chronic Rare Disease

Adrianna Tuomi, a licensed clinical social worker and Soft Bones Community Member and Region Lead will be presenting a webinar on the psychological effects of…

Taralyn Naslonski November 11, 2020

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