Results 21 to 30 of about 2,254,019 (317)
Universitas Scientiarum, 2016 β-hexosaminidases (Hex) are dimeric enzymes involved in the lysosomal degradation of glycolipids and glycans. They are formed by α- and/or β-subunits encoded byHEXA and HEXB genes, respectively.
Angela Johana Espejo Mojica +7 more
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Scientific Reports, 2017 Previously, we demonstrated production of an active recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) enzyme in Escherichia coli as a potential therapeutic alternative for mucopolysaccharidosis IVA.
Luis H. Reyes +4 more
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Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients
Molecular Genetics and Metabolism Reports, 2019 Phenylketonuria (PKU) is a disorder of phenylalanine metabolism, characterized by a neurotoxic phenylalanine (Phe) accumulation, and treatable with a life-long Phe-restricted diet. Though early and continuously treated PKU (ETPKU) patients exhibit normal
Yvan Herenger +7 more
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Inborn errors of metabolism [PDF]
, 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. +3 more
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Applying hierarchical task analysis to medication administration errors [PDF]
, 2006 Medication use in hospitals is a complex process and is dependent on the successful interaction of health professionals functioning within different disciplines.
Stanton, Neville A. +5 more
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Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy
Endocrinology, Diabetes & Metabolism, 2023 Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to ...
Valentina Rovelli +12 more
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Journal of Pediatric Research, 2018 Inborn errors of metabolism comprise a broad range of genetic diseases of which most are inherited in an autosomal recessive manner. Although being rare, there is a significant increase in their rate especially in countries where consanguineous marriages
Asburçe Olgaç +4 more
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BMC 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
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Measure of Central Tendency: Undergraduate Students’ Error in Decision-Making Perspective
International 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
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Dealing with Interpretation Errors in Tutorial Dialogue [PDF]
, 2009 We describe an approach to dealing with interpretation errors in a tutorial dialogue system. Allowing students to provide explanations and generate contentful talk can be helpful for learning, but the language that can be understood by a computer system ...
Moore, Johanna D. +16 more
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