Results 11 to 20 of about 24,798 (312)

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

Orphanet Journal of Rare Diseases, 2018
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM).
Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz, Luis A. Barrera   +8 more
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An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

Molecular Genetics and Metabolism Reports, 2020
Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism.
S. Pajares, R.M. López, L. Gort, A. Argudo-Ramírez, J.L. Marín, J.M. González de Aledo-Castillo, J. García-Villoria, J.A. Arranz, M. Del Toro, F. Tort, O. Ugarteburu, M.D. Casellas, R. Fernández, A. Ribes   +13 more
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Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth

Scientific Reports, 2023
The prognosis of phenylketonuria (PKU) is related to the quality of metabolic control all life-long. PKU treatment is based on a low-Phe diet, 6R-tetrahydrobiopterin (BH4) treatment for the BH4-responsive PKU patients or enzyme replacement therapy ...
Maurane Theron, Elise Jeannesson, Marie Canton, Farès Namour, Abderrahim Oussalah, François Feillet, Arnaud Wiedemann   +6 more
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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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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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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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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
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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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Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism

, 2021
Inborn errors of metabolism (IEMs) represent a complex system model, in need of a shift of approach exploring the main factors mediating the regulation of the system, internal or external and overcoming the traditional concept of biochemical and genetic ...
Juri Zuvadelli, Lorenza Putignani, Cristina Bonfanti, on behalf of SIMMESN Working group for gut microbiota in inborn errors of metabolism, Chiara Montanari, Sara Parolisi, Biasucci G, Elisa Borghi, Maria Teresa Carbone and Elvira Verduci, Albina Tummolo, Giulia Bassanini, Carlo Dionisi Vici, Alberto Burlina   +12 more
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