Hypophosphatasia as a rare cause of neonatal seizures
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When I found out I was pregnant, the thought of my innocent little baby having an ultra-rare disease never crossed my mind. I was asking myself questions like “Is it going to be a boy or a girl?”, “Am I going to be a good mother?”, “What am I going to name him/her?”. Then during …
Living with HPP: Aubrey’s Story
When I found out I was pregnant, the thought of my innocent little baby having an ultra-rare disease never crossed my mind. I was asking…
Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review
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Biomarker profiling of vitamin responsive seizures: a potential tool to detect pediatric seizures of unknown aetiology
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Aubrey’s Journey with HPP
Have you ever had the ultrasound tech stop what she was doing, and say she needed to go get the doctor? Well, I have. And…
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