Results 11 to 20 of about 1,246 (204)

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

Overview of neonatal screening for phenylketonuria in Brazil [PDF]

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   +3 more sources

A Systematic Review and Meta-Analysis [PDF]

, 2023
Funding Information: A.P. received an educational grant from Cambrooke Therapeutics and grants from Vitaflo International, Nutricia, Merck Serono, Biomarin, Mevalia and Applied Pharma Research to attend scientific meetings. This project is also part of A.
Daly, Anne, Evans, Sharon, Hickson, Mary, Ilgaz, Fatma, Karabulut, Erdem, MacDonald, Anita, Pinto, Alex, Rocha, Júlio César, van Dam, Esther   +8 more
core   +6 more sources

Multicenter study on long-term growth in patients with phenylketonuria. [PDF]

Orphanet J Rare Dis
INTRODUCTION: Most of the studies on PKU have focused on the neurological development of patients. Studies regarding the physical development usually cover a short period of time, do not include dietary information, and results are contradictory. The aim
Stanescu S, Belanger-Quintana A, Rocha JC, Almeida MF, Ahring K, Dokoupil K, Lammardo AM, van Dam E, Muriel A, MacDonald A, ENEP group.   +10 more
europepmc   +3 more sources

Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria. [PDF]

J Inherit Metab Dis
ABSTRACT Phenylketonuria (PKU) is a rare metabolic disorder causing elevated phenylalanine (PHE) levels requiring lifelong dietary or pharmacological management and regular monitoring. Current PHE monitoring methods, such as tandem mass spectrometry (FIA‐MS/MS), are laboratory and sample transport‐dependent, leading to delays in obtaining results. This
Gondrand C, Reischl-Hajiabadi AT, Bonedeau E, Weiß N, Schneider G, Fahn M, Myers F, Städle PM, Jeltsch K, Hoffmann GF, Okun JG, Haas D, Garbade SF, Johnsson K, Opladen T.   +14 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

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