Results 131 to 140 of about 2,729,552 (357)
Illuminating Immunity: A Systematic Review of Immune Cell Autofluorescence
Journal of Biophotonics, EarlyView.ABSTRACT Immunophenotyping provides valuable prognostic and diagnostic information, but is technically complex and expensive. The assessment of autofluorescence is label‐free and provides complex information on cell identity. However, research on its application to immunophenotyping has been heterogenous.
Aline Knab +4 more
wiley +1 more source
Case-control study about the acceptance of Pegvaliase in Phenylketonuria
Molecular Genetics and Metabolism Reports, 2020 Introduction: Pegvaliase is a novel enzyme substitution therapy approved by the European Drug Administration (EDA) in May 2019 for the treatment of Phenylketonuria (PKU) in adults and children ≥16 years of age.
Johannes Krämer
doaj
Molecular Genetics and Metabolism Reports, 2020 Introduction: Phenylketonuria (PKU) is an inborn error of metabolism, which is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). Life-long Phe-free diet impairs quality of life, especially in adolescents and young adults which take ...
Johannes Krämer
doaj
Inborn Errors of Metabolism: The Croonian Lectures Delivered Before the Royal College of Physicians of London, in June, 1908. [PDF]
, 1909 openalex +1 more source
The role of exome sequencing in newborn screening for inborn errors of metabolism
Nature Network Boston, 2020 Aashish N. Adhikari +23 more
semanticscholar +1 more source
International Journal of Molecular Sciences, 2016 Inborn errors of metabolism (IEM) represent a group of about 500 rare genetic diseases with an overall estimated incidence of 1/2500. The diversity of metabolic pathways involved explains the difficulties in establishing their diagnosis.
A. Tebani +4 more
semanticscholar +1 more source
The Role of Proton Magnetic Resonance Spectroscopy in Neonatal and Fetal Brain Research
Journal of Magnetic Resonance Imaging, EarlyView.The biochemical composition and structure of the brain are in a rapid change during the exuberant stage of fetal and neonatal development. 1H‐MRS is a noninvasive tool that can evaluate brain metabolites in healthy fetuses and infants as well as those with neurological diseases.
Steve C.N. Hui +2 more
wiley +1 more source
Iduronate-2-sulfatase interactome: validation by yeast two-hybrid assay
Heliyon, 2022 Background: Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked recessive disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS), which activates intracellular accumulation of ...
Eliana Benincore-Flórez +6 more
doaj
The untapped power of a general theory of organismal metabolism [PDF]
arXivWhat makes living things special is how they manage matter, energy, and entropy. A general theory of organismal metabolism should therefore be quantified in these three currencies while capturing the unique way they flow between individuals and their environments. We argue that such a theory has quietly arrived -- 'Dynamic Energy Budget' (DEB) theory --
arxiv
Morquio-Ullrich's Disease: An Inborn Error of Metabolism? [PDF]
, 1962 H Dyggve, J Melchior, J. Clausen
openalex +1 more source