Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Juan Pozo-Palacios"'
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
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
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
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
https://doi.org/10.34119/bjhrv6n1-279