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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...

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Dades bibliogràfiques
Publicat a:J Endocr Soc
Autors principals: Wright, Jordan J, Hu, Jiun-Ruey, Yi, Zahra Shajani, Dahir, Kathryn McCrystal
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2020
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7209584/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.676
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