Results 21 to 30 of about 4,805,408 (315)
The Mathematical Intelligencer, 2018 It is well known that a center of a given circle cannot be constructed using only a straightedge and that this was proven by David Hilbert. Still it is not so clear what kind of object is proven to be non-existing. We analyze different attempts to define a geometric construction appearing in the literature and observe that none of them is really ...
openaire +3 more sources
Scientific Reports, 2023 The prognosis of phenylketonuria (PKU) is related to the quality of metabolic control all life-long. PKU treatment is based on a low-Phe diet, 6R-tetrahydrobiopterin (BH4) treatment for the BH4-responsive PKU patients or enzyme replacement therapy ...
Maurane Theron +6 more
doaj +1 more source
Micro-Checker: Software for identifying and correcting genotyping errors in microsatellite data
, 2004 DNA degradation, low DNA concentrations and primer-site mutations may result in the incorrect assignment of microsatellite genotypes, potentially biasing population genetic analyses.
C. Oosterhout +3 more
semanticscholar +1 more source
Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients
Molecular Genetics and Metabolism Reports, 2019 Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal
Yvan Herenger +7 more
doaj +1 more source
Scientific Reports, 2017 Previously, we demonstrated production of an active recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) enzyme in Escherichia coli as a potential therapeutic alternative for mucopolysaccharidosis IVA.
Luis H. Reyes +4 more
doaj +1 more source
Universitas Scientiarum, 2016 β-hexosaminidases (Hex) are dimeric enzymes involved in the lysosomal degradation of glycolipids and glycans. They are formed by α- and/or β-subunits encoded byHEXA and HEXB genes, respectively.
Angela Johana Espejo Mojica +7 more
doaj +1 more source
Detecting crosstalk errors in quantum information processors [PDF]
Quantum, 2019 Crosstalk occurs in most quantum computing systems with more than one qubit. It can cause a variety of correlated and nonlocal crosstalk errors that can be especially harmful to fault-tolerant quantum error correction, which generally relies on errors ...
M. Sarovar +5 more
semanticscholar +1 more source
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy
Endocrinology, Diabetes & Metabolism, 2023 Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to ...
Valentina Rovelli +12 more
doaj +1 more source
Journal of Pediatric Research, 2018 Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç +4 more
doaj +1 more source
Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria
Medicina, 2021 Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity
Agnieszka Kowalik +2 more
doaj +1 more source