Results 31 to 40 of about 2,577,886 (309)

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

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, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier   +7 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 ...
openaire   +2 more sources

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, Eliana Benincore, Natalia Pimentel, Luis H. Reyes, Camilo Patarroyo, Alexander Rodríguez-López, M. Martin-Rufian, Luis Alejandro Barrera, Carlos J. Alméciga-Díaz   +8 more
doaj   +1 more source

Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals

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, Vaneisse Monteiro MSc, Cléber Cruz MSc, Carla Silva BS, Adriana Bastos MSc, Luiz Silva PhD   +5 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.
openaire   +1 more source

Bridging the Loneliness Gap: Depression, Connectivity, and Isolation in Pediatric Oncology Patients and Their Peers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Loneliness is associated with adverse physical and mental health outcomes and remains understudied in children and adolescents undergoing cancer therapy. Pediatric oncology patients may be at increased risk due to medical isolation and disruption of social networks.
Charlotte N. Stahlfeld, Scott H. Maurer, Michelle D. Watkinson, John Nury, Elise Barberis, Molly C. Mack   +5 more
wiley   +1 more source

Inborn errors of metabolism

, 2019
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common.
Ferreira, Carlos R., Carlos R. Ferreira, Clara D.M. van Karnebeek, van Karnebeek, Clara D. M.   +3 more
core   +1 more source

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study

Orphanet Journal of Rare Diseases
Background 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, Lena Damaj, Magali Gorce, Magalie Barth, Antoine Bedu, Elise Sacaze, Delphine Lamireau, Cécile Laroche-Raynaud, Laurent Pasquier, Zoha Maakaroun-Vermesse, Marine Tardieu, François Labarthe   +11 more
doaj   +1 more source

Early Body Mass Index z‐Score Change and Resolution of Severe Malnutrition in Children With Sickle Cell Anemia in a Low‐Income Setting: A Prospective Single‐Arm Extension Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with sickle cell anemia (SCA) in low‐income settings are at risk of severe malnutrition, but optimal nutritional management has not been established. We evaluated an intensified ready‐to‐use therapeutic food (RUTF) regimen in children with persistent severe malnutrition after initial treatment and assessed whether early ...
Safiya Gambo, Shehu Umar Abdullahi, Hassan Adam Murtala, Halima Kabir, Khadija A. Shamsu, Sari A. Acra, Virginia A. Stallings, Mark Rodeghier, Michael R. DeBaun, Lauren J. Klein   +9 more
wiley   +1 more source

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, Щербакова Людмила Михайловна   +1 more
doaj   +1 more source