Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review
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Tag: Inborn error of metabolism
Pulmonary Manifestations of Endocrine and Metabolic Diseases in Children
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Hypophosphatasia. Nature’s Window on Alkaline Phosphatase Function in Humans
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Hypophosphatasia and How Alkaline Phosphatase Promotes Mineralization
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Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology
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Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of ALPL Gene and One Year Follow-Up Under Enzyme Replacement Therapy; a Case Report.
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Childhood Hypophosphatasia: to Treat or Not to Treat
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Profile of Asfotase Alfa in the Treatment of Hypophosphatasia: Design, Development, and Place in Therapy
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