Hypophosphatasia as a rare cause of neonatal seizures Denise Goodbar June 22, 2021 0 Comments To read more please click on the link below. Read Article
Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review To read more please click on the link below. Read Article Denise Goodbar September 1, 2021 0 Comments
Patient of the Month- Alison S. If you would like to donate to Soft Bones in honor of Alison, please click the button below! Donate Here Hi, I’m Alison, and I’m… Margaret Robb May 1, 2025 0 Comments
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced cofactor pyridoxal 5 phosphate availability To read more please click on the link below. Read Article Denise Goodbar May 28, 2021 0 Comments
Successful treatment with bone maturation and average life expectancy of hypophosphatasia model mice by adeno-associated virus type 8-mediated neonatal gene therapy via single muscle injection To read more please click on the link below. Read Article Denise Goodbar June 14, 2021 0 Comments
Biomarker profiling of vitamin responsive seizures: a potential tool to detect pediatric seizures of unknown aetiology To read more please click on the link below. Read Article Denise Goodbar November 5, 2020 0 Comments
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