Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases

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Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases

2023; De Gruyter; Volume: 62; Issue: 1 Linguagem: Inglês

10.1515/cclm-2023-0427

ISSN

1437-4331

Autores

Trinidad González-Cejudo, Juan Miguel Villa-Suárez, María Ferrer-Millán, Francisco Andújar-Vera, Victoria Contreras-Bolívar, María Carmen Andreo-López, José Gómez-Vida, Luis Martínez-Heredia, Sheila González-Salvatierra, Tomás de Haro Muñoz, Cristina García‐Fontana, Manuel Muñoz‐Torres, Beatriz García-Fontana,

Tópico(s)

Biochemical and Molecular Research

Resumo

Since the prevalence of hypophosphatasia (HPP), a rare genetic disease, seems to be underestimated in clinical practice, in this study, a new diagnostic algorithm to identify missed cases of HPP was developed and implemented.

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Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases