Results 41 to 50 of about 2,125,068 (305)
Advanced Science, EarlyView.Using a novel, aptamer‐based biosensor, here we have performed 20‐s‐resolved, in situ measurements of plasma‐free tryptophan in the jugular veins of live rats (blue). This unprecedented time‐resolution provides insights into the regulation of tryptophan metabolism in live, intact animals.
Yuyang Wu +7 more
wiley +1 more source
Advanced Intelligent Systems, EarlyView.A unifying device–cardiovascular interface framework is presented to classify implantable cardiovascular technologies as intracardiovascular blood‐contacting systems or extracardiovascular tissue‐only and blood‐handling architectures. Cross‐class comparison across shared semiquantitative criteria, including blood‐contact burden, biomimicry ...
Bergo Nicolò +7 more
wiley +1 more source
Molecular Genetics and Metabolism Reports, 2016 The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood +11 more
doaj +1 more source
Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation
International Journal of Neonatal Screening, 2023 Anti-Kell alloimmunisation is a potentially severe minor blood group type incompatibility, not only as a cause of haemolytic disease of the foetus and newborn, but also due to the destruction of red blood cells (RBC) and mature form in the bone marrow ...
Rodrigo Alfredo Morales Painamil +7 more
doaj +1 more source
Inborn errors of enzymes in glutamate metabolism [PDF]
, 2020 Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of glutamate metabolism.
Verhoeven-Duif, Nanda +18 more
core +1 more source
Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism [PDF]
, 2021 Inborn errors of metabolism (IEMs) represent a complex system model, in need of a shift of approach exploring the main factors mediating the regulation of the system, internal or external and overcoming the traditional concept of biochemical and genetic ...
Juri Zuvadelli +28 more
core +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
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 +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo +5 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 +1 more source