Status Epilepticus due to Asfotase Alfa Interruption in Perinatal Severe Hypophosphatasia.
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DOI: 10.1016/j.pediatrneurol.2021.12.009
Abstract: BACKGROUND Hypophosphatasia (HPP), an inherited, metabolic disorder caused by loss-of-function mutations in the ALPL gene, affects not only bone and tooth mineralization but also central nervous system (CNS) function, resulting in vitamin B6/pyridoxine-responsive seizures. Asfotase… read more here.
Keywords: asfotase alfa; asfotase; seizure exacerbation; interruption ... See more keywords