Results 31 to 40 of about 4,805,408 (315)

Increasing the spectrum of white matter diseases with tigroid pattern on MRI: glutaric aciduria type 1 – case report

open access: yesBMC Pediatrics, 2021
Background Most white matter diseases present on magnetic resonance imaging as focal or diffuse T2-hyperintensities. However, in a few of them, radially oriented stripes of low (relatively normal) signal intensity are observed within diffusely affected ...
Monika Bekiesinska-Figatowska   +5 more
doaj   +1 more source

Measure of Central Tendency: Undergraduate Students’ Error in Decision-Making Perspective

open access: yesInternational Journal of Education, 2021
The purpose of this research was to examine undergraduates' understanding of the central tendency measure from a decision-making perspective. The research adopted a qualitative method by employing an interview and test to obtain the data.  It enrolled 93
Rosidah Rosidah, Fadhil Zil Ikram
doaj   +1 more source

UMI-tools: Modelling sequencing errors in Unique Molecular Identifiers to improve quantification accuracy

open access: yesbioRxiv, 2016
Unique Molecular Identifiers (UMIs) are random oligonucleotide barcodes that are increasingly used in high-throughout sequencing experiments. Through a UMI, identical copies arising from distinct molecules can be distinguished from those arising through ...
Tom S. Smith, A. Heger, I. Sudbery
semanticscholar   +1 more source

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

open access: yesOrphanet 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

open access: yesHeliyon, 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

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

open access: yesJournal 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

Refractive errors [PDF]

open access: yesDeutsches Ärzteblatt international, 2016
All over the world, refractive errors are among the most frequently occuring treatable distur - bances of visual function. Ametropias have a prevalence of nearly 70% among adults in Germany and are thus of great epidemiologic and socio-economic relevance.In the light of their own clinical experience, the authors review pertinent articles retrieved by a
Ulrich, Schiefer   +4 more
openaire   +2 more sources

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

open access: yesOrphanet 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   +11 more
doaj   +1 more source

Preferences of Pediatric Patients and Their Caregivers for Chemotherapy‐Induced Nausea and Vomiting Control Endpoints: A Mixed Methods Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Although not always achieved, complete chemotherapy‐induced nausea and vomiting (CINV) control is the conventional goal of CINV prophylaxis. In this two‐center, mixed‐methods study, we sought to understand the preferences of adolescent patients and family caregivers for CINV control endpoints.
Haley Newman   +8 more
wiley   +1 more source

MISTAKES OF THE LEGISLATOR – DIFFICULTIES OF LAW ENFORCEMENT – QUALITATIVE DETERIORATION OF CRIME [PDF]

open access: yesСеверо-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

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