Zobrazeno 1 - 10
of 300
pro vyhledávání: '"Ethylmalonic encephalopathy"'
Autor:
Alyaa Dawoud, Rana A. Youness, Kareem Elsayed, Heba Nafae, Hoda Allam, Hager Adel Saad, Carole Bourquin, Csaba Szabo, Reham Abdel-Kader, Mohamed Z. Gad
Publikováno v:
Redox Report, Vol 29, Iss 1 (2024)
Gasotransmitters play crucial roles in regulating many physiological processes, including cell signaling, cellular proliferation, angiogenesis, mitochondrial function, antioxidant production, nervous system functions and immune responses. Hydrogen su
Externí odkaz:
https://doaj.org/article/80ba841df7354ce5806657a1c6a6fb21
Akademický článek
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Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 4, Iss 1, Pp 51-55 (2021)
Background: Ethylmalonic encephalopathy (EE) is a devastating early-onset inborn error of metabolism, and heterogenous disorders manifest as chronic diarrhea, petechial rash, and neurological manifestations. The mutation in the ETHE1 gene leads to hy
Externí odkaz:
https://doaj.org/article/794fa293bcc3409ea3609a43bf8998d3
Autor:
Giorgia Olivieri, Diego Martinelli, Daniela Longo, Chiara Grimaldi, Daniela Liccardo, Ivano Di Meo, Andrea Pietrobattista, Anna Sidorina, Michela Semeraro, Carlo Dionisi-Vici
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Ethylmalonic encephalopathy (EE) is a severe intoxication-type metabolic disorder with multisystem clinical features and leading to early death. In 2014, based on the promising results obtained by liver-targeted gene therapy in Et
Externí odkaz:
https://doaj.org/article/4522e8f9b2db4be2bc0e579ae42707e3
Akademický článek
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Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Ethylmalonic encephalopathy (EE) is a very rare autosomal recessive metabolic disorder that primarily affects children. Less than one hundred EE patients have been diagnosed worldwide. The clinical manifestations include chronic diarrhea, petechiae,
Externí odkaz:
https://doaj.org/article/e3bc108f036240b6b8857c0e50d78451
Akademický článek
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Publikováno v:
Journal of Pediatric Research, Vol 5, Iss 1, Pp 51-53 (2018)
Deficiency of mitochondrial sulfur dioxygenase (ETHE1) causes a rare inborn error of metabolism, ethylmalonic encephalopathy, which is characterized by early-onset encephalopathy, chronic hemorrhagic diarrhea, recurrent petechiae, orthostatic acrocya
Externí odkaz:
https://doaj.org/article/21bec63d51d448ffba270b5e2b55d943
Autor:
Bindu Parayil Sankaran, Periyasamy Govindaraj, Tripti Khanna, Madhu Nagappa, Arun B Taly, Sekar Deepha, Gajanan Sathe, Akhilesh Pandey, Narayanappa Gayathri
Publikováno v:
Mitochondrion. 58:64-71
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. To study the molecular effects of ETHE1 p. D165H mutation, we employed mass spectrometry-based mitochondrial proteome and phosphoproteome profiling in the huma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1525d63347b32b34e2aa84c0a94b0859
https://doi.org/10.1016/j.mito.2021.02.011
https://doi.org/10.1016/j.mito.2021.02.011
Autor:
Sarah H. Elsea, Mir Reza Bekheirnia, Jaehyung Lim, Gregory M. Rice, Mary Elizabeth M. Tessier, Erica Lay, Claudia Soler-Alfonso, Fernando Scaglia, Stephen F. Kralik, Brian J. Shayota
Publikováno v:
Journal of Child Neurology. 36:841-852
Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the ETHE1 gene. The phenotype of this disease has been attributed to deficiency in the mitochondrial sulfur dioxygenase leadin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::062ed1022ed01632583d2923026c84e1
https://doi.org/10.1177/08830738211006507
https://doi.org/10.1177/08830738211006507