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P049: Prenatal diagnosis of hypophosphatasia and long-term outcomes following early neonatal asfotase alfa treatment

Year: 2026

Type: conference-abstract

Abstract: Hypophosphatasia (HPP) is caused by one or two deleterious variants in the alkaline phosphatase (ALPL) gene and characterized by defective mineralization of growing or remodeling bone, with or without root-intact tooth loss, in the presence of low activity of serum and bone alkaline phosphatase (ALP). HPP has significant phenotypic variability within affected families and across the disease continuum including perinatal/severe, perinatal/benign, infantile, childhood, adult, and odontohypophosphatasia.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2026.103540

Authors: Megan Raymond, Plamena Simeonova, Amy Patterson, Julie Hoover-Fong

Institution: Johns Hopkins University

Language: English

Topic: Alkaline Phosphatase Research Studies

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200

OpenAlex ID: W7133945567

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