Results 31 to 40 of about 2,254,019 (317)
Orphanet Journal of Rare Diseases, 2018 Background Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency are long-chain fatty acid oxidation disorders with particularly high morbidity and mortality.
Amelie S. Lotz-Havla +7 more
doaj +1 more source
Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain
Heliyon, 2019 Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona +8 more
doaj +1 more source
Errors in the Interpretation of Errors in Epidemiology [PDF]
American Journal of Public Health and the Nations Health, 1962 N THEIR paper, "Effects of Errors in I Classification and Diagnosis in Various Types of Epidemiological Studies," Diamond and Lilienfeld' perpetuate a common error in the analysis of falsepositives and false-negatives. Since in so doing they appear to disprove a wellknown statistical result that misclassification tends to decrease true differences,2 a ...
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Journal of Inborn Errors of Metabolism and Screening, 2015 Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr).
Roseani Andrade MSc +5 more
doaj +1 more source
Orphanet Journal of Rare DiseasesBackground Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole population, and specific vaccinations ...
Anne-Sophie Renous +11 more
doaj +1 more source
An Error in Temporal Error Theory [PDF]
Journal of the American Philosophical Association, 2018 AbstractWithin the philosophy of time there has been a growing interest in positions that deny the reality of time. Those positions, whether motivated by arguments from physics or metaphysics, have a shared conclusion: time is not real. What has not been made clear, however, is exactly what it entails to deny the reality of time.
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Type 1 plasminogen deficiency (PLGD‐1) is an ultra‐rare autosomal recessive disorder caused by variants in the PLG gene and affects approximately 1.6 individuals per million. The condition is characterized by decreased plasminogen levels and impaired function, resulting in fibrin‐rich lesions on mucous membranes throughout the body.
Charles Nakar +7 more
wiley +1 more source
Prescribing errors : what’s the story? [PDF]
, 2001 Although prescribing errors are one of the most common causes of preventable iatrogenic injury, there have been relatively few studies of their incidence and causes. The majority of the studies that have been carried out have been based in secondary care.
Dean, Bryony
core
MISTAKES OF THE LEGISLATOR – DIFFICULTIES OF LAW ENFORCEMENT – QUALITATIVE DETERIORATION OF CRIME [PDF]
Северо-Кавказский юридический вестник, 2020 The article analyzes the relationship of erroneous legislation, defective law enforcement and qualitative characteristics of crime, shows the objective and subjective reasons for negative processes in the field of crime control.
Панько Кирилл Константинович +1 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Pediatric radiation therapy presents unique challenges compared to adult treatments, including those of immobilization, potential need for sedation, and the critical importance of accurate, reproducible positioning. Additionally, heightened attention to imaging doses is necessary to minimize long‐term toxicity in survivors.
Parham Alaei +17 more
wiley +1 more source