Zobrazeno 1 - 10
of 44
pro vyhledávání: '"hiperfenilalaninemia"'
Publikováno v:
Revista Portuguesa de Medicina Geral e Familiar, Vol 36, Iss 5 (2020)
Introdução: A microcefalia e a microencefalia que lhe está associada pode ter início intrauterino ou pós-natal. A etiologia é diversa, englobando doenças genéticas, metabólicas, infeções intrauterinas ou exposições ambientais, exigindo u
Externí odkaz:
https://doaj.org/article/dd0794cda2a449b29ca616aff981b8ab
Publikováno v:
INFAD, Vol 1, Iss 2, Pp 253-264 (2015)
Phenylketonuria (PKU) is a type of hyperphenylalaninemias, which are an inborn group of errors of the amino acid phenylalanine metabolism that are usually characterized by producing a severe mental retardation and even death if it is not treated prop
Externí odkaz:
https://doaj.org/article/ec82af042cc54268956e6f60292a267d
Publikováno v:
Acta Pediátrica de México, Vol 33, Iss 6, Pp 296-300 (2014)
Non treated phenylketonuria (PKU) has serious consequences such as growth retardation and intellectual impairment along with symptoms like erythematous eczema, fair skin and hair, seizures, autistic conduct and aggressive behavior. Pre-symptomatic bi
Externí odkaz:
https://doaj.org/article/823fd3b0a45141f4a2a6c2b673ab8c00
Publikováno v:
Acta Pediátrica de México, Vol 33, Iss 6, Pp 331-334 (2014)
Hyperphenylalaninemia is caused by deficient enzyme activity of phenylalanine hydroxylase. It was one of the first genetic disorders susceptible to treatment with a natural protein restricted diet for life. While this treatment has proven effective i
Externí odkaz:
https://doaj.org/article/b02a356b478944db82458121b2058922
Autor:
Gustavo JC Borrajo
Publikováno v:
Acta Pediátrica de México, Vol 33, Iss 6, Pp 279-287 (2014)
Latin America is a region conformed by 20 countries characterized by a wide diversity among them, which can be demonstrated through several indicators such as rural population percentage, ethnicity, public health budget allocated and infant mortality
Externí odkaz:
https://doaj.org/article/e4b133822e45452a849f3ce57660a848
Autor:
Mercedes Martínez-Pardo
Publikováno v:
Acta Pediátrica de México, Vol 33, Iss 6, Pp 319-323 (2014)
Tetrahydrobiopterin (BH4) is an enzyme cofactor of phenylalanine hydroxylase, tyrosine hydroxylase and tryptophan hydroxylase. Three different enzymes affect BH4 synthesis: guanosine triphosphate cyclohydrolase I (GTP CH 1), 6-piruvoil tetrahydropter
Externí odkaz:
https://doaj.org/article/ea7ae5fa92584fa88e8673fcb2fb19fe
Publikováno v:
Acta Pediátrica de México, Vol 33, Iss 6, Pp 308-310 (2014)
Argentinean hyperphenylalaninemia newborn screening program was initiated by the Infantile Endocrinology Foundation in 1985. At the present it coexists with other several public health programs. To date phenylketonuria (PKU) incidence is 1:12,000 liv
Externí odkaz:
https://doaj.org/article/f1d3c19226ec46578bd1ae91c43bc8c8
Autor:
Ernesto Antonio Figueiró-Filho, Alessandro Henrique Antunes Lopes, Flávio Renato de Almeida Senefonte, Virgilio Gonçalves de Souza Júnior, Carlos Augusto Botelho, Geraldo Duarte
Publikováno v:
Revista Brasileira de Ginecologia e Obstetrícia, Vol 26, Iss 10, Pp 813-817 (2004)
A fenilcetonúria materna é uma aminoacidopatia caracterizada por níveis elevados de fenilalanina plasmática na gestante, o que pode provocar anormalidades no desenvolvimento do feto, condição que se denomina síndrome de fenilcetonúria materna
Externí odkaz:
https://doaj.org/article/2771735039564859affcf053f9551322
Autor:
Mayra Escaf
Publikováno v:
Salud Uninorte, Iss 17, Pp 36-39 (2003)
La fenilcetonuria pertenece al grupo de las hiperfenilalaninemias. Es una enfermedad infantil, metabólica, causada por un déficit de la enzima (sustancia proteica capaz de activar indirectamente una reacción química definida) del hígado llamad
Externí odkaz:
https://doaj.org/article/ce0ddca9e4514f4184316a99d511ce74
Publikováno v:
Repositorio Institucional U. Caldas
Universidad de Caldas
instacron:Universidad de Caldas
Universidad de Caldas
instacron:Universidad de Caldas
Las mutaciones del gen PAH generan deficiencia de la enzima fenilalanina hidroxilasa. Su actividad final varía desde una actividad casi nula o indetectable en la fenilcetonuria clásica hasta una actividad residual del 10 al 35% de la normal. Esta a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e314a9c51844f61bc0625287cb070757
https://doi.org/10.17151/biosa.2018.17.1.6
https://doi.org/10.17151/biosa.2018.17.1.6