Results 41 to 50 of about 64,666 (262)
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
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
Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]
, 2001 Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Clements JA +29 more
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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
BMC Veterinary Research, 2023 Background Bovine herpes virus (BoHV 1 and BoHV-5) are the causative agents of infectious bovine rhinotracheitis (IBR). IBR is responsible for important economic losses in the cattle industry.
Juan Sebastián Quintero Barbosa +5 more
doaj +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 +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
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]
, 2016 INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès-Saladelafont, Elisenda +17 more
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Rheumatological Diseases in Patients with Inborn Errors of Immunity in the USIDNET Registry [PDF]
, 2021 Nurcicek Padem +7 more
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Inborn errors of metabolite repair [PDF]
Journal of Inherited Metabolic Disease, 2019 AbstractIt is traditionally assumed that enzymes of intermediary metabolism are extremely specific and that this is sufficient to prevent the production of useless and/or toxic side‐products. Recent work indicates that this statement is not entirely correct.
Veiga‐da‐Cunha, Maria +2 more
openaire +3 more sources