Results 11 to 20 of about 32,945 (208)

Inborn Errors of Metabolism

, 2016
Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
Ezgu, FATİH SÜHEYL, Fatih Ezgu
openaire   +4 more sources

Inborn Errors of Purine Salvage and Catabolism [PDF]

, 2023
Cellular purine nucleotides derive mainly from de novo synthesis or nucleic acid turnover and, only marginally, from dietary intake. They are subjected to catabolism, eventually forming uric acid in humans, while bases and nucleosides may be converted ...
Simone Allegrini, Bernardini, Giulia, Pesi, Rossana, Garcia-Gil, Mercedes, Allegrini, Simone, Rossana Pesi, Mercedes Garcia-Gil, Giulia Bernardini, Micheli, Vanna, Tozzi, Maria Grazia, Camici, Marcella, Maria Grazia Tozzi, Vanna Micheli, Marcella Camici   +13 more
core   +1 more source

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
core   +1 more source

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
doaj   +1 more source

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
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

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
core   +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

High-Risk Screening and Diagnosis of Inborn Errors of Metabolism [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, Roberto Giugliani MD, PhD, Kremer,Raquel de, Kremer, Raquel, Raquel de Kremer MD, PhD, Civallero,Gabriel, Giugliani,Roberto, Gabriel Civallero PhD, Civallero, Gabriel Eduardo Santiago   +8 more
core   +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