Results 11 to 20 of about 1,229 (164)

Phenylketonuria

Nature Reviews Disease Primers, 2021
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe intellectual disability, epilepsy and behavioural problems.
Francjan J, van Spronsen, Nenad, Blau, Cary, Harding, Alberto, Burlina, Nicola, Longo, Annet M, Bosch   +5 more
openaire   +5 more sources

Behavioral Phenotyping of the Pah^enu2 Mouse Model for Phenylketonuria-A Scoping Review and Future Perspectives. [PDF]

J Inherit Metab Dis
ABSTRACT Phenylketonuria (PKU) is a rare metabolic disorder resulting from a mutation in the gene encoding the enzyme phenylalanine hydroxylase (PAH), resulting in very high phenylalanine (Phe) levels in blood and brain. A PKU mutant mouse model was developed via N‐ethyl‐N‐nitrosourea (ENU) mutagenesis, mimicking the high brain Phe content seen in ...
Cao J, Kruizinga L, Hovens IB, van der Goot E, Havekes R, van der Zee EA.   +5 more
europepmc   +2 more sources

Intestinal peroxisome proliferator‐activated receptor α‐fatty acid‐binding protein 1 axis modulates nonalcoholic steatohepatitis

Hepatology, EarlyView., 2022
Abstract Background and Aims Peroxisome proliferator‐activated receptor α (PPARα) regulates fatty acid transport and catabolism in liver. However, the role of intestinal PPARα in lipid homeostasis is largely unknown. Here, intestinal PPARα was examined for its modulation of obesity and NASH. Approach and Results Intestinal PPARα was activated and fatty
Tingting Yan, Yuhong Luo, Nana Yan, Keisuke Hamada, Nan Zhao, Yangliu Xia, Ping Wang, Changdong Zhao, Dan Qi, Shoumei Yang, Lulu Sun, Jie Cai, Qiong Wang, Changtao Jiang, Oksana Gavrilova, Kristopher W. Krausz, Daxesh P. Patel, Xiaoting Yu, Xuan Wu, Haiping Hao, Weiwei Liu, Aijuan Qu, Frank J. Gonzalez   +22 more
wiley   +1 more source

Quality of Life and the Associated Psychological Factors in Caregivers of Children with PKU [PDF]

Iranian Journal of Psychiatry, 2011
"nObjectives: The main objective of this study was to investigate the association of psychological factors and life stressors with quality of life in caregivers of children with PKU.
Nargess Alirezaei, Saeedeh Mostafavi, Javad Mahmoudi-Gharaei   +2 more
doaj   +2 more sources

Overview of neonatal screening for phenylketonuria in Brazil

Medicina, 2016
Objectives: To present an overview of neonatal screening for phenylketonuria in Brazil. Methodology: An electronic search was made in LILACS, employing the terms “neonatal screening” and “Brazil” and “Phenylketonuria”.
Alessandra B. Trovó de Marqui
doaj   +1 more source

Caracterización fenotípica y molecular de una familia colombiana con fenilcetonuria

Biomédica: revista del Instituto Nacional de Salud, 2016
Introducción. La fenilcetonuria es un trastorno metabólico caracterizado por un compromiso neurológico grave y por alteraciones del comportamiento. Su diagnóstico temprano permite establecer un tratamiento efectivo que evita las secuelas y modifica el ...
Nancy Gélvez, Johana Acosta, Greizy López, Derly Castro, Juan Carlos Prieto, Martha Bermúdez, Marta L. Tamayo   +6 more
doaj   +1 more source

Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program Fenilcetonúria, hipotireoidismo congênito e hemoglobinopatias: questões de saúde pública para um programa de triagem neonatal brasileiro

Cadernos de Saúde Pública, 2012
In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn
Judy Botler, Luiz Antonio Bastos Camacho, Marly Marques da Cruz   +2 more
doaj   +1 more source

Aspectos clínicos da fenilcetonúria em serviço de referência em triagem neonatal da Bahia Clinical aspects of phenylketonuria in a reference service for neonatal screening in Bahia

Revista Brasileira de Saúde Materno Infantil, 2005
OBJETIVOS: descrever as características clínicas dos pacientes com hiperfenilalaninemia acompanhados no Serviço de Referência em Triagem Neonatal (SRTN) do estado da Bahia. MÉTODOS: estudo descritivo transversal, tendo como amostra todos os pacientes com
Tatiana Amorim, Sara P.P. Gatto, Ney Boa-Sorte, Maria Efigênia Q. Leite, Maria Inês M. M. Fontes, Junaura Barretto, Angelina X. Acosta   +6 more
doaj   +1 more source

Análise de desempenho do Programa de Triagem Neonatal do Estado do Rio de Janeiro, Brasil, de 2005 a 2007 Performance analysis of the Rio de Janeiro State Neonatal Screening Program, 2005-2007

Cadernos de Saúde Pública, 2011
As diretrizes enfatizam o momento adequado para a coleta do teste de triagem neonatal entre o 3º e o 7º dias de vida, em 100% dos recém-natos. O tratamento do hipotireoidismo congênito e da fenilcetonúria iniciado até 2 semanas de vida é capaz de evitar ...
Judy Botler, Luiz Antonio Bastos Camacho, Marly Marques da Cruz   +2 more
doaj   +1 more source

Crianças com fenilcetonúria: avaliação audiológica básica e supressão das otoemissões Children with phenylketonuria: basic audiological evaluation and suppression of otoacoustic emissions

Revista da Sociedade Brasileira de Fonoaudiologia, 2012
OBJETIVO: Avaliar a via auditiva de crianças com fenilcetonúria tratadas precocemente, por meio de audiometria, imitanciometria e supressão das emissões otoacústicas transientes. MÉTODOS:Estudo prospectivo transversal comparativo com amostra composta por
Patrícia Souza Ribeiro, Tatiana Lopes Torres, Ana Lúcia Pimenta Starling, Maria Cecília Martinelli Iório, Patrícia Cotta Mancini   +4 more
doaj   +1 more source