Results 11 to 20 of about 7,438 (233)
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 +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 +6 more
doaj +5 more sources
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 +4 more
doaj +3 more sources
Phenylalanine Tolerance over Time in Phenylketonuria: A Systematic Review and Meta-Analysis. [PDF]
Nutrients, 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.
Pinto A +8 more
europepmc +8 more sources
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 299-305, January 2023., 2023 Abstract Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination.
Ashley M. Vanasse +8 more
wiley +1 more source
Autism Research, Volume 15, Issue 12, Page 2265-2295, December 2022., 2022 Abstract Compared to neurotypical peers, autistic adolescents show greater cognitive inflexibility (CI) which manifests at the behavioral and cognitive level and potentially increases vulnerability for the development of internalizing (INT) and externalizing (EXT) symptoms.
Jiedi Lei +5 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
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 +22 more
wiley +1 more source
Human Mutation, Volume 43, Issue 12, Page 1673-1705, December 2022., 2022 Abstract Loss‐of‐function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization. The consequence of ENPP1 Deficiency is a broad range of age dependent symptoms and morbidities
Stephanie A. Mercurio +8 more
wiley +1 more source
Deep learning serves traffic safety analysis: A forward‐looking review
IET Intelligent Transport Systems, Volume 17, Issue 1, Page 22-71, January 2023., 2023 Abstract This paper explores deep learning (DL) methods that are used or have the potential to be used for traffic video analysis, emphasising driving safety for both autonomous vehicles and human‐operated vehicles. A typical processing pipeline is presented, which can be used to understand and interpret traffic videos by extracting operational safety ...
Abolfazl Razi +6 more
wiley +1 more source