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Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome

We present an unusual Mexican patient affected with mucopolysaccharidosis type IIIB (MPS IIIB; also called Sanfilippo B syndrome, MIM #252920) bearing clinical features that have not previously been described for MPS IIIB (growth arrest, hypogonadotropic hypogonadism, and congenital heart disease)....

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Detalles Bibliográficos
Autores principales: Fernández-Hernández, Liliana, Reyna-Fabián, Miriam Erandi, Alcántara-Ortigoza, Miguel Angel, Aláez-Verson, Carmen, Flores-Lagunes, Luis L., Carrillo-Sánchez, Karol, González-del Angel, Ariadna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140210/
https://www.ncbi.nlm.nih.gov/pubmed/35626423
http://dx.doi.org/10.3390/diagnostics12051268