Results 11 to 20 of about 7,483 (223)

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

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   +3 more sources

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 [PDF]

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   +2 more sources

Caracterización fenotípica y molecular de una familia colombiana con fenilcetonuria [PDF]

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   +5 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

Breastfeeding in infants diagnosed with phenylketonuria [PDF]

Cochrane Database Syst Rev, 2022
Objectives: This is a protocol for a Cochrane Review (intervention). The objectives are as follows:. To assess the effects of breastfeeding (exclusive or partial) compared to low-Phe formula feeding in the first six months after birth in infants ...
Chong L, Kalvala J, Chadborn N, Ojha S.
europepmc   +3 more sources

Phenylalanine Tolerance over Time in Phenylketonuria: A Systematic Review and Meta-Analysis. [PDF]

Nutrients, 2023
In phenylketonuria (PKU), natural protein tolerance is defined as the maximum natural protein intake maintaining a blood phenylalanine (Phe) concentration within a target therapeutic range.
Pinto A, Ilgaz F, Evans S, van Dam E, Rocha JC, Karabulut E, Hickson M, Daly A, MacDonald A.   +8 more
europepmc   +6 more sources

Bone Status in Patients with Phenylketonuria: A Systematic Review [PDF]

, 2020
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Although dietary and, in some cases, pharmacological treatment has been successful in preventing intellectual disability in PKU patients who are treated early, suboptimal ...
Couce, María Luz, de Castro, María José, de Lamas, Carmela, González-Lamuño Leguina, Domingo, Sánchez Pintos, Paula   +4 more
core   +2 more sources

Economics of tandem mass spectrometry screening of neonatal inherited disorders [PDF]

, 2006
Objectives: The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS). Methods: A systematic review
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core   +1 more source

Long-Term Growth in Phenylketonuria: A Systematic Review and Meta-Analysis [PDF]

, 2019
There is an ongoing debate regarding the impact of phenylketonuria (PKU) and its treatment on growth. To date, evidence from studies is inconsistent, and data on the whole developmental period is limited.
Ahring, Kirsten, Bélanger-Quintana, Amaya, Dokoupil, Katharina, Gökmen-Özel, Hülya, Ilgaz, Fatma, Karabulut, Erdem, MacDonald, Anita, Pinto, Alex, Rocha, Júlio César, van Dam, Esther   +9 more
core   +2 more sources

Family planning decisions for parents of children with a rare genetic condition: a scoping review [PDF]

, 2017
Expansion of newborn screening programmes increases the complexity around reproductive choices, both in terms of the increased number of parents faced with making reproductive decisions from the earliest days of their affected child's life, and the ...
Armstrong, Atkin, Benn, Bexhell, Boardman, Bustamante-Aragonés, Current status of newborn screening worldwide, Damle, de Bocanegra, Dudding, Duff, Fidika, Gramer, Götz, Hayeems, Henneman, Hill, Joy, Kelly, Levac, Lindner, Myring, National Institutes of Health Consensus Development Panel, Nennstiel-Ratzel, Oerton, Peters, Pham, Pourfarzam, Read, Sawyer, Schultz, Timmermans, Torkelson, Wilcken, Winner   +34 more
core   +1 more source