Results 11 to 20 of about 18,136 (230)
Multicenter study on long-term growth in patients with phenylketonuria [PDF]
Orphanet J Rare DisINTRODUCTION: 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
Ahring, K. +9 more
core +2 more sources
METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA
Revista Paulista de Pediatria, 2021 Objective: To characterize metabolic control and verify whether it has any relation with socioeconomic, demographic, and body composition variables in children and adolescents with phenylketonuria (PKU) diagnosed in the neonatal period.
Zeni Drubi Nogueira +4 more
doaj +2 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 +8 more
core +6 more sources
Another Population of Phenylketonuria? Studies on Atypical Phenylketonurias
Developmental Medicine & Child Neurology, 2008 Paul Dyken, William Culley
core +2 more sources
International Journal of Neonatal Screening, 2021 Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass ...
J. Loeber +46 more
semanticscholar +1 more source
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
Arquivos de Neuro-Psiquiatria, 2023 Background Phenylketonuria (PKU) is an inborn error of metabolism caused by deficient activity of phenylalanine hydroxylase. In Brazil, the National Neonatal Screening Program enables early treatment of patients with PKU, which prevents them ...
Ida Vanessa Doederlein Schwartz +5 more
doaj +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 +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. +4 more
core +1 more source
In vivo cytidine base editing of hepatocytes without detectable off-target mutations in RNA and DNA
Nature Biomedical Engineering, 2021 Base editors are RNA-programmable deaminases that enable precise single-base conversions in genomic DNA. However, off-target activity is a concern in the potential use of base editors to treat genetic diseases.
L. Villiger +16 more
semanticscholar +1 more source