Results 21 to 30 of about 2,244,731 (317)

Improvement in the production of the human recombinant enzyme N-acetylgalactosamine-6-sulfatase (rhGALNS) in Escherichia coli using synthetic biology approaches

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, Carolina Cardona, Luisa Pimentel, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz   +4 more
doaj   +1 more source

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, Emmanuelle Maes, Laurent François, Jeremy Pasco, Juliette Bouchereau, Samia Pichard, Hélène Ogier de Baulny, Manuel Schiff   +7 more
doaj   +1 more source

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, Graziella Cefalo, Vittoria Ercoli, Juri Zuvadelli, Turri Olivia, Daniela Graziani, Alberti Luisella, Davide Bassi, Alice Re Dionigi, Raed Selmi, Sabrina Paci, Elisabetta Salvatici, Giuseppe Banderali   +12 more
doaj   +1 more source

“Double Hit” Homozygous Mutations for Two Different Rare Inborn Errors of Metabolism: A Burden for Countries with High Prevalences of Consangineous Marriages

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, Leyla Tümer, Serdar Ceylaner, Gürsel Biberoğlu, Alev Hasanoğlu   +4 more
doaj   +1 more source

Dietary Treatment from Birth to Pregnancy in a Woman with Methylmalonic Aciduria

Medicina, 2021
Methylmalonic aciduria is treated with a natural protein-restricted diet with adequate energy intake to sustain metabolic balance. Natural protein is a source of methylmalonic acid precursors, and intake is individually modified according to the severity
Agnieszka Kowalik, Anita MacDonald, Jolanta Sykut-Cegielska   +2 more
doaj   +1 more source

Errors and learning from errors at work

, 2012
To understand what constitutes errors at work and, in particular, how productive learning might arise from those errors, it is necessary to go beyond viewing errors as only objective social facts.
Billett, Stephen, Billett, S, Stephen Billett   +2 more
core   +1 more source

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

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, Marek Duczkowski, Agnieszka Duczkowska, Joanna Taybert, Amanda Krzywdzinska, Jolanta Sykut-Cegielska   +5 more
doaj   +1 more source

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
doaj   +1 more source

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., Campbell, Gwendolyn E., Dzikovska, Myroslava O., Farrow, Elaine, Steinhauser, Natalie, Steinhauser, Natalie B., Johanna D. Moore, Callaway, Charles, Moore, Johanna, Natalie Steinhauser, Callaway, Charles B., Elaine Farrow, Myroslava O. Dzikovska, Dzikovska, Myroslava, Campbell, Gwendolyn, Charles B. Callaway, Gwendolyn Campbell   +16 more
core   +1 more source

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