Zobrazeno 1 - 10
of 447
pro vyhledávání: '"Medium chain acyl CoA dehydrogenase deficiency"'
Autor:
Christoff Odendaal, Emmalie A. Jager, Anne-Claire M. F. Martines, Marcel A. Vieira-Lara, Nicolette C. A. Huijkman, Ligia A. Kiyuna, Albert Gerding, Justina C. Wolters, Rebecca Heiner-Fokkema, Karen van Eunen, Terry G. J. Derks, Barbara M. Bakker
Publikováno v:
BMC Biology, Vol 21, Iss 1, Pp 1-22 (2023)
Abstract Background Monogenetic inborn errors of metabolism cause a wide phenotypic heterogeneity that may even differ between family members carrying the same genetic variant. Computational modelling of metabolic networks may identify putative sourc
Externí odkaz:
https://doaj.org/article/c317aa533e824a27ae9be54b9fd0b3e9
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
Abstract Medium chain acyl-coA dehydrogenase deficiency (MCADD), the most common fatty acid oxidation disorder, has been regarded as a relatively benign condition with low risk of mortality in patients with a known diagnosis, if adequate caloric inta
Externí odkaz:
https://doaj.org/article/00c713dfb94a4fc4acb1bb3ec1614cba
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundIt is generally recognized that genetic metabolic disorders can result in neurological symptoms such as seizures, developmental delay, and intellectual disability. Heterogeneous clinical presentations make the diagnosis challenging.Case pre
Externí odkaz:
https://doaj.org/article/cba363c7290c4940b5cf1c407ded5d93
Autor:
Shelley M. Vanderhout, Maureen Smith, Nicole Pallone, Kylie Tingley, Michael Pugliese, Pranesh Chakraborty, Sylvia Stockler, Martin Offringa, Nancy Butcher, Stuart G. Nicholls, Beth K. Potter
Publikováno v:
Research Involvement and Engagement, Vol 7, Iss 1, Pp 1-8 (2021)
Plain English summary Core outcome sets (COS) are lists of outcomes agreed upon by a group of people to be measured and reported in studies about certain diseases and populations. Core outcomes are meant to represent what is useful to study from the
Externí odkaz:
https://doaj.org/article/bc5e62045a2c4baeab27767d09c848ac
Autor:
Rasmus Stenlid, Hannes Manell, Rikard Seth, Sara Y. Cerenius, Azazul Chowdhury, Camilla Roa Cortés, Isabelle Nyqvist, Thomas Lundqvist, Maria Halldin, Peter Bergsten
Publikováno v:
Metabolites, Vol 13, Iss 7, p 780 (2023)
(1) Background: Deficiencies of mitochondrial fatty acid oxidation (FAO) define a subgroup of inborn errors of metabolism, with medium-chain acyl-CoA dehydrogenase deficiency (MCAD) and very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) being
Externí odkaz:
https://doaj.org/article/cdf4d614c37a4ae19b2cf545f02add49
Akademický článek
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Autor:
Ito Hidekazu, Mizuno Shoji
Publikováno v:
Saudi Journal of Anaesthesia, Vol 15, Iss 2, Pp 213-215 (2021)
Medium-chain acyl-CoA dehydrogenase deficiency can cause symptoms resulting from β-oxidation disorder during preoperative fasting. Tight perioperative glucose monitoring is needed to avoid these symptoms. We report the first pediatric case using con
Externí odkaz:
https://doaj.org/article/0d48355de4ea474dab5a90fe5b318b03
Autor:
Maria D. Karaceper, Sara D. Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Christine Davies, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Steven Hawken, Robin Z. Hayeems, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little, Aizeddin Mhanni, John J. Mitchell, Meranda Nakhla, Murray Potter, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Sylvia Stockler, Keiko Ueda, Hilary Vallance, Brenda J. Wilson, Pranesh Chakraborty, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative comparison cohort. Methods
Externí odkaz:
https://doaj.org/article/a72bcbf99e054f53a45cf6d8dba004cf
Autor:
Zhuwen Gong, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Yu Wang, Wenjun Ji, Ting Chen, Xuefan Gu, Lianshu Han
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
ObjectiveMedium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare inherited metabolic disorder of fatty acid β-oxidation. The present study aimed to evaluate clinical and biochemical manifestations, and the mutation spectrum of this disorder
Externí odkaz:
https://doaj.org/article/1bf1b63ab789430a8f8ccfc4ebf7cd23
Akademický článek
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