Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

Background and Objectives: Diagnostic delay is common in attenuated Mucopolysaccharidosis Type I (MPS Ia) due to the rarity of the disease and the variability of clinical presentation. Short stature and impaired growth velocity are frequent findings in MPS Ia, but they rarely raise suspicion as paed...

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Detalles Bibliográficos
Autores principales: Baronio, Federico, Zucchini, Stefano, Zulian, Francesco, Salerno, Mariacarolina, Parini, Rossella, Cattoni, Alessandro, Deodato, Federica, Gaeta, Alberto, Bizzarri, Carla, Gasperini, Serena, Pession, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8780542/
https://www.ncbi.nlm.nih.gov/pubmed/35056405
http://dx.doi.org/10.3390/medicina58010097

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8780542/
https://www.ncbi.nlm.nih.gov/pubmed/35056405
http://dx.doi.org/10.3390/medicina58010097

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