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SAT-382 Pyridoxal 5’-Phosphate Cerebrospinal Fluid Abnormalities in Hyopophosphatasia Before and After Enzyme Replacement Therapy
Introduction: Hypophosphatasia (HPP) is an inborn error of metabolism due to deficiency of tissue non-specific alkaline phosphatase (TNSALP), characterized by a wide range of skeletal and neurological symptoms. Little is known about the mechanism of neurologic involvement, but it may result from ine...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7209584/ http://dx.doi.org/10.1210/jendso/bvaa046.676 |