Results 21 to 30 of about 167,513,957 (289)

Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder

Frontiers in Genetics, 2021
IntroductionAutism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive behavior. Up to 70% of ASD cases are linked with intellectual disability (ID).
Johannes Krämer, Meinrad Beer, Harald Bode, Benedikt Winter   +3 more
doaj   +1 more source

Nutritional Management of Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Inborn errors of metabolism (IEM) are a large group of single-gene disorders resulting from enzyme defects in biochemical and metabolic pathways [...
Couce ML, Vitoria I.
europepmc   +2 more sources

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
core   +2 more sources

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
core   +2 more sources

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
doaj   +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

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

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