Results 21 to 30 of about 2,214,124 (236)

From Common Pathway to Divergent Diseases: Metabolic Aspects of Inborn Errors of CoA Biosynthesis. [PDF]

J Inherit Metab Dis
ABSTRACT Coenzyme A (CoA) biosynthesis is a conserved, dynamically regulated pathway essential for mitochondrial energy production, fatty acid oxidation, lipid biosynthesis and protein acylation. Biallelic variants in PANK2, PPCS, PPCDC, and COASY cause rare inborn errors of CoA biosynthesis, associated with markedly different clinical phenotypes ...
Di Meo I, Anikster Y, Tiranti V, Iuso A.
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

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

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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Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells

Journal of Lipid Research, 2017
Niemann-Pick C (NPC) disease is an autosomal recessive disorder that leads to excessive storage of cholesterol and other lipids in late endosomes and lysosomes.
Nina H. Pipalia, Kanagaraj Subramanian, Shu Mao, Harold Ralph, Darren M. Hutt, Samantha M. Scott, William E. Balch, Frederick R. Maxfield   +7 more
doaj   +1 more source

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations [PDF]

European Journal of Human Genetics, 2016
Protein-losing enteropathy (PLE) is a clinical disorder of protein loss from the gastrointestinal system that results in hypoproteinemia and malnutrition. This condition is associated with a wide range of gastrointestinal disorders. Recently, a unique syndrome of congenital PLE associated with biallelic mutations in the DGAT1 gene has been reported in ...
Joshi, Stephen, Thierry, Vilboux, Yael, Haberman, Hadass, Pri-Chen, Ben, Pode-Shakked, Sina, Mazaheri, Dina, Marek-Yagel, Ortal, Barel, Ayelet, Di Segni, Eran, Eyal, Goni, Hout-Siloni, Avishay, Lahad, Tzippora, Shalem, Gideon, Rechavi, May Christine V, Malicdan, Batia, Weiss, William A, Gahl, Yair, Anikster   +17 more
openaire   +2 more sources

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
core   +1 more source

Síndrome de Chanarin-Dorfman Chanarin-Dorfman Syndrome

Revista Brasileira de Hematologia e Hemoterapia, 2010
A síndrome de Chanarin-Dorfman é uma doença rara autossômica recessiva, que pode estar associada à ictiose, caracteriza-se pela presença de gotículas lipídicas intracelulares em células dos mais variados tecidos, especialmente nos queratinócitos e ...
Sheila de Oliveira Garcia, Aline de Lima Deolindo, Juliana Pereira   +2 more
doaj   +1 more source

Inborn errors of metabolism

, 2019
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in newborns. They are individually rare but collectively common.
Ferreira, Carlos R., Carlos R. Ferreira, Clara D.M. van Karnebeek, van Karnebeek, Clara D. M.   +3 more
core   +1 more source

Liver-directed gene-based therapies for inborn errors of metabolism

, 2021
Inborn errors of metabolism include several genetic disorders due to disruption of cellular biochemical reactions. Although individually rare, collectively they are a large and heterogenous group of diseases affecting a significant proportion of patients.
Piccolo, Pasquale, Brunetti-Pierri, Nicola, Rossi, Alessandro   +2 more
core   +1 more source