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Published in 2022 at "Bone Reports"
DOI: 10.1016/j.bonr.2021.101163
Abstract: Hypophosphatasia (HPP) is a congenital disorder with decreased activity of tissue-nonspecific alkaline phosphatase. Asfotase alfa is the only treatment approved for HPP and improves the impairment of bone mineralization. Although several previous studies have reported…
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Keywords:
benign prenatal;
case report;
asfotase alfa;
pseudofracture ... See more keywords
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Published in 2021 at "Pediatric neurology"
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…
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Keywords:
asfotase alfa;
asfotase;
seizure exacerbation;
interruption ... See more keywords
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Published in 2019 at "Internal Medicine"
DOI: 10.2169/internalmedicine.3298-19
Abstract: A 40-year-old Japanese woman presented to our hospital with general fatigue and muscle weakness. She had a history of premature loss of deciduous teeth at 4 years old, her serum alkaline phosphatase (ALP) activity was…
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Keywords:
asfotase alfa;
asfotase;
muscle weakness;