Results 11 to 20 of about 1,718,768 (214)

A proposed nosology of inborn errors of metabolism [PDF]

, 2018
Purpose: We propose a nosology for inborn errors of metabolism that builds on their recent redefinition. Methods: We established a strict definition of criteria to develop a self-consistent schema for inclusion of a disorder into the nosology.
Ferreira, Carlos R., Carlos R. Ferreira, Nenad Blau, Clara D.M. van Karnebeek, van Karnebeek, Clara D M, Blau, Nenad, Jerry Vockley, van Karnebeek, Clara D. M., Vockley, Jerry, Ferreira, Carlos R   +9 more
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Eye movement disorders in inborn errors of metabolism : A quantitative analysis of 37 patients [PDF]

, 2022
Inborn errors of metabolism are genetic disorders that need to be recognized as early as possible because treatment may be available. In late-onset forms, core symptoms are movement disorders, psychiatric symptoms, and cognitive impairment.
de Koning, Tom J,, de Koning, Tom J, de Koning, Tom J., Klouwer, Femke C C,, Klouwer, Femke C C, Leen, Wilhelmina G, Lunsing, Roelineke J, Roelineke J. Lunsing, Inge Tuitert, Marina A. J. Tijssen, Koelman, Johannes H T M, Hans Blokzijl, Marc Engelen, Johannes H. T. M. Koelman, Lisette H. Koens, Tijssen, Marina A. J., Lange, Fiete, Tuitert, Inge, Engelen, Marc, Koens, Lisette H, Femke C. C. Klouwer, Verrips, Aad,, Tijssen, Marina A J,, Lange, Fiete,, Lunsing, Roelineke J,, Leen, Wilhelmina G., Lunsing, Roelineke J., Koelman, Johannes H T M,, Leen, Wilhelmina G,, Koens, Lisette H., Blokzijl, Hans, Koelman, Johannes H. T. M., Aad Verrips, Koens, Lisette H,, Klouwer, Femke C. C., Blokzijl, Hans,, Verrips, Aad, Tijssen, Marina A J, Fiete Lange, Wilhelmina G. Leen, Engelen, Marc,, Tuitert, Inge,, Lund University., Tom J. de Koning, Koens, Lisette H; id_orcid   +44 more
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High-risk screening and diagnosis of inborn errors of metabolism : a practical guide for laboratories [PDF]

, 2018
Inborn errors of metabolism (IEM) are a large and heterogeneous group of genetic diseases. In most of these conditions, the presence of variants in specific genes leads to enzyme deficiencies that affect a particular metabolic step.
Giugliani, Roberto, Kremer, Raquel, Civallero, Gabriel Eduardo Santiago   +2 more
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Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism [PDF]

, 2021
Contains fulltext : 231543.pdf (Publisher’s version ) (Open Access)The identification of disease biomarkers plays a crucial role in developing diagnostic strategies for inborn errors of metabolism and understanding their pathophysiology.
Moons, Sam J., Boltje, Thomas J., van Karnebeek, C.D.M., Coene, Karlien L. M., Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., van Rooij, Arno, Peters, T.M.A., Engelke, Udo F. H., Martens, Jonathan, Boer, S. de, van der Heeft, Ed, Outersterp, R.E. van, Kluijtmans, L.A.J., Peters, Tessa M. A., Coene, K.L.M., Berden, G., Oomens, J., van Karnebeek, Clara D. M., Martens, J., Wevers, R.A., Engelke, U.F.H., Heeft, E. van der, Boltje, T.J., van der Heeft, E., Bentlage, H., de Boer, Siebolt, Berden, Giel, Bentlage, Herman, Martens, J.K., Oomens, Jos, van Outersterp, R.E., van Rooij, A., Wevers, Ron A., Rooij, A.J.M. van, de Boer, S., van Outersterp, Rianne E., Huigen, M.C.D.G., Karnebeek, C.D. van, Moons, S.J.   +39 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, Emmanuelle Maes, Laurent François, Jeremy Pasco, Juliette Bouchereau, Samia Pichard, Hélène Ogier de Baulny, Manuel Schiff   +7 more
doaj   +1 more source

Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents [PDF]

, 2019
BACKGROUND: Inborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the central nervous system and other organs.
Zeltner, Nina A., Welsink-Karssies, Mendy M., Bosshard-Bullinger, Dominique, Bosch, Annet M., Baumgartner, Matthias R; https://orcid.org/, Landolt, Markus A., Baumgartner, Matthias R., Karall, Daniela, Keller, Fabia, Huemer, Martina, Welsink-Karssies, Mendy M, Grünert, Sarah C, Groenendijk, Marike, Scholl-Bürgi, Sabine, Huemer, Martina; https://orcid.org/, Zeltner, Nina A, Rettenbacher, Beatrix, Landolt, Markus A; https://orcid.org/, Bosch, Annet M, Grünert, Sarah C.   +19 more
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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
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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
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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
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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
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