Results 21 to 30 of about 42,467 (260)

Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism

Communications Biology, 2021
The identification of disease biomarkers plays a crucial role in developing diagnostic strategies for inborn errors of metabolism and understanding their pathophysiology.
R. V. van Outersterp, S. Moons, U. Engelke, H. Bentlage, T. Peters, A. van Rooij, M. Huigen, Siebolt de Boer, E. van der Heeft, L. Kluijtmans, C. V. van Karnebeek, R. Wevers, G. Berden, J. Oomens, T. Boltje, K. Coene, J. Martens   +16 more
semanticscholar   +1 more source

PKU and COVID19: How the pandemic changed metabolic control

Molecular Genetics and Metabolism Reports, 2021
Background: COVID19 pandemic urged the need to take severe measures for reducing the epidemic spread. Lockdowns were imposed throughout countries and even Inborn errors of metabolism (IEMs) affected patients had to face it and adapt, with management ...
Valentina Rovelli, Juri Zuvadelli, Vittoria Ercoli, Chiara Montanari, Sabrina Paci, Alice Re Dionigi, Andrea Scopari, Elisabetta Salvatici, Graziella Cefalo, Giuseppe Banderali   +9 more
doaj   +1 more source

Fructose and Mannose in Inborn Errors of Metabolism and Cancer

Metabolites, 2021
History suggests that tasteful properties of sugar have been domesticated as far back as 8000 BCE. With origins in New Guinea, the cultivation of sugar quickly spread over centuries of conquest and trade. The product, which quickly integrated into common
Elizabeth L. Lieu, N. Kelekar, Pratibha Bhalla, Jiyeon Kim   +3 more
semanticscholar   +1 more source

Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism

Frontiers in Physiology, 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 ...
C. Montanari, S. Parolisi, E. Borghi, L. Putignani, G. Bassanini, J. Zuvadelli, Cristina Bonfanti, Albina Tummolo, C. Dionisi Vici, Giacomo Biasucci, A. Burlina, M. T. Carbone, E. Verduci   +12 more
semanticscholar   +1 more source

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

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet

American Journal of Medical Genetics. Part A, 2021
From Sir Archibald Garrod's initial description of the tetrad of albinism, alkaptonuria, cystinuria, and pentosuria to today, the field of medicine dedicated to inborn errors of metabolism has evolved from disease identification and mechanistic discovery
H. Vernon, I. Manoli
semanticscholar   +1 more source

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

International Journal of Molecular Sciences, 2020
As an essential vitamin, the role of riboflavin in human diet and health is increasingly being highlighted. Insufficient dietary intake of riboflavin is often reported in nutritional surveys and population studies, even in non-developing countries with ...
S. Mosegaard, G. Dipace, P. Bross, J. Carlsen, N. Gregersen, R. Olsen   +5 more
semanticscholar   +1 more source

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

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