Results 101 to 110 of about 31,184 (250)
Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients
The Turkish Journal of Pediatrics, 1993 The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript.
M Ozgüç +5 more
doaj
How Does Neural Network Reparametrization Improve Geophysical Inversion?
Journal of Geophysical Research: Machine Learning and Computation, Volume 2, Issue 2, June 2025.Abstract Full waveform inversion (FWI) is a high‐resolution seismic inversion technique and great efforts have been made to mitigate the multi‐solution problem, such as the traditional total variation (TV) regularization. Different from traditional regularization, a new regularization design approach named neural network (NN) reparametrization (Deep ...
Yuping Wu, Jianwei Ma
wiley +1 more source
Assessing the Phenylketonuria Screening Program in Newborns, Iran 2015-2016 [PDF]
, 2018 Phenylketonuria is one of the most important congenital disorders and an autosomal recessive metabolic disease that can cause irreversible brain damages, mental retardation, and cognitive disorders if left untreated.
Ganji, Foruzan +4 more
core +1 more source
Geophysical Research Letters, Volume 52, Issue 9, 16 May 2025.Abstract In recent decades, the Tibetan Plateau (TP) has experienced a notable rise in fine particulate matter (PM2.5) levels, impacting its climate and ecology. However, accurately simulating PM2.5 concentrations on the TP remains challenging. This study investigates the uncertainties in PM2.5 underestimation, including meteorological conditions, dust
Mengyuan Zhang +7 more
wiley +1 more source
An overview of current prenatal genetic screening and diagnosis guidelines
Pregnancy, Volume 1, Issue 3, May 2025.Abstract The landscape of prenatal genetics continues to evolve rapidly, with improvements in processing speed and technology. Clinicians are tasked with staying current with the latest recommendations for prenatal genetic screening and diagnosis in order to provide patient‐centered and evidence‐based care. We present a review of 15 societal guidelines
Carmen M. A. Santoli +3 more
wiley +1 more source
Rapid one-step separation and purification of recombinant phenylalanine dehydrogenase in aqueous two-phase systems [PDF]
, 2008 Background: Phenylalanine dehydrogenase (PheDH; EC 1.4.1.20) is a NAD +-dependent enzyme that performs the reversible oxidative deamination of L-phenylalanine to phenylpyruvate.
Mohammadi, H.S. +2 more
core
Scientific Reports, 2017 Excess accumulation of phenylalanine is the characteristic of untreated Phenylketonuria (PKU), a well-known genetic abnormality, which triggers several neurological, physical and developmental severities.
B. Anand +3 more
semanticscholar +1 more source
China's Eco‐Civilisation, Climate Leviathan, and Hobbesian Energy Transition
Antipode, Volume 57, Issue 3, Page 830-861, May 2025.Abstract Scholars have hitherto tended to theorise China's ecological civilisation project either as a form of environmental authoritarianism or as a vision of eco‐socialism. This paper contributes to the conversation by conducting a textual analysis of Chinese scholarly discussions on eco‐civilisation.
David Chen
wiley +1 more source
Revista CEFAC, 2010 TEMA: a fenilcetonúria é uma doença genética que provoca alterações bioquímicas conduzindo a uma deficiência na síntese de proteínas e de neurotransmissores, e prejudicando o processo de mielinização.
Patrícia Cotta Mancini +4 more
doaj +1 more source
Development of an mRNA replacement therapy for phenylketonuria
Molecular Therapy: Nucleic Acids, 2022 C. G. Perez-Garcia +11 more
semanticscholar +1 more source