Výsledky vyhledávání - "Juan Pozo-Palacios"

Akademický článek

Expanding diversity within phenylketonuria in ecuadorian patients: genetic analysis and literature review of newborn screenings

Autor: Alex S. Aguirre, Edison Haro, Alberto Campodónico, Benjamín Arias-Almeida, Alissa Mendoza, Juan Pozo-Palacios, Vanessa Isabel Romero Aguilar

Publikováno v: BMC Pediatrics, Vol 24, Iss 1, Pp 1-8 (2024)

Abstract Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency in the phenylalanine hydroxylase (PAH) enzyme, leading to the accumulation of phenylalanine and its metabolites, which are toxic to the central nervous

Externí odkaz: https://doaj.org/article/0597f5d6dbff4634a3651f3dec9ee5f4

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Akademický článek

Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador

Autor: Juan Pozo-Palacios, Arianne Llamos-Paneque, Christian Rivas, Emily Onofre, Andrea López-Cáceres, Jenniffer Villareal

Publikováno v: Frontiers in Psychiatry, Vol 12 (2021)

Fragile X syndrome (FXS) is the most common cause of hereditary intellectual disability and the second most common cause of intellectual disability of genetic etiology. This complex neurodevelopmental disorder is caused by an alteration in the CGG tr

Externí odkaz: https://doaj.org/article/3a21c935570e426894a07255e77e360a

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Akademický článek

Spatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador

Autor: Juan Pozo-Palacios, Génesis García-Díaz, Fernando Cruz, Fabián Porras, Jessica Heras, Eder Cano-Pérez

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

Abstract The newborn screening program in Ecuador has been operating since 2011 under the responsibility of the Ministry of Health. This program is centralized and diagnoses four diseases: congenital hypothyroidism, phenylketonuria, galactosemia, and

Externí odkaz: https://doaj.org/article/9c10482962f2486899dec8b69096fdb9

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Interacción de factores genéticos y ambientales en el metabolismo del ácido fólico y la patogénesis de defectos del tubo neural

Autor: Milton Alexander Morocho Valdez, Juan Pozo-Palacios

Publikováno v: Brazilian Journal of Health Review. 6:3585-3599

Los defectos del tubo neural (DTN) son considerados las malformaciones congénitas multifactoriales más frecuentes y comunes en humanos que afecta el desarrollo del sistema nervioso central, de los cuales presentan una mayor incidencia la espina b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e8d009eccdd7734f8eac8b4f0200bd4e
https://doi.org/10.34119/bjhrv6n1-279

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