Results 41 to 50 of about 2,734,131 (399)

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Journal of Inherited Metabolic Disease, 2018
The implementation of whole-exome sequencing in clinical diagnostics has generated a need for functional evaluation of genetic variants. In the field of inborn errors of metabolism (IEM), a diverse spectrum of targeted biochemical assays is employed to ...
K. Coene, L. Kluijtmans, E. van der Heeft, U. Engelke, Siebolt de Boer, Brechtje Hoegen, Hanneke J T Kwast, M. van de Vorst, M. Huigen, I. Keularts, M. Schreuder, C. V. van Karnebeek, S. Wortmann, M. D. De Vries, M. Janssen, C. Gilissen, J. Engel, R. Wevers   +17 more
semanticscholar   +1 more source

Inborn errors of metabolism in the differential diagnosis of fatty liver disease.

The Turkish Journal of Gastroenterology, 2020
Nonalcoholic fatty liver disease (NAFLD) has become the most common chronic liver disease across all age groups. Obesity, diabetes, and metabolic syndrome, are the primary causes that are closely linked with the development of NAFLD.
Yılmaz Yıldız, H. Sivri
semanticscholar   +1 more source

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

Rare and common genetic determinants of metabolic individuality and their effects on human health [PDF]

, 2022
Garrod’s concept of ‘chemical individuality’ has contributed to comprehension of the molecular origins of human diseases. Untargeted high-throughput metabolomic technologies provide an in-depth snapshot of human metabolism at scale.
Arlt, W, Au Yeung, VPW, Bomba, L, Butterworth, AS, Danesh, J, Denaxas, S, Di Angelantonio, E, Falchi, M, Fauman, EB, Gamazon, ER, Hemingway, H, Howson, JMM, Hysi, PG, Kastenmüller, G, Langenberg, C, Li, C, Lotta, LA, Mangino, M, Menni, C, Michelotti, GA, Pietzner, M, Raffler, J, Rossi, N, Sheridan, PA, Smith, RF, Soranzo, N, Spector, TD, Stewart, ID, Suhre, K, Surendran, P, Wareham, NJ, Watkins, NA, Wittemans, LBL, Wood, AM, Wörheide, MA, Zierer, J   +35 more
core   +3 more sources

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

Evolving Inborn Knowledge For Fast Adaptation in Dynamic POMDP Problems [PDF]

, 2020
Rapid online adaptation to changing tasks is an important problem in machine learning and, recently, a focus of meta-reinforcement learning. However, reinforcement learning (RL) algorithms struggle in POMDP environments because the state of the system, essential in a RL framework, is not always visible. Additionally, hand-designed meta-RL architectures
arxiv   +1 more source

A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders

Frontiers in Neurology, 2020
Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid-akinetic syndrome) movement disorders. The diagnosis of these diseases is in
J. Ortigoza‐Escobar
semanticscholar   +1 more source

Characterization of recombinant human lysosomal beta-hexosaminidases produced in the methylotrophic yeast Pichia pastoris

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, Angela Rocío Mosquera, Edwin Alexander Rodríguez-López, Dennis Johana Díaz, Laura Milena Betrán, Francy Liliana Hernández, Carlos Javier Alméciga Díaz, Luis Alejandro Barrera   +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

Gene therapy for inborn errors of liver metabolism: progress towards clinical applications [PDF]

, 2008
The treatment for inborn errors of liver metabolism is based on dietary, drug, and cell therapies (orthotopic liver transplantation). However, significant morbidity and mortality still remain, and alternative strategies are needed.
Brunetti-Pierri, Nicola
core   +3 more sources