Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Isovaleric acidaemia"'
Autor:
Xingmiao Liu, Xinquan Liu, Wenxuan Fan, Zhongbin Zhang, Peiyuan Zhang, Xiaojun Liu, Meifang Lei, Qing Li, Xiaoli Yu, Dong Li
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundIsovaleric acidaemia (IVA), characterized by an acute metabolic crisis and psychomotor delay, is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD).MethodsWe report the case of a Chinese patient
Externí odkaz:
https://doaj.org/article/7494e15ebcfe4a64b9636fea8cdfba2a
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 4, p 93 (2020)
Glutaric aciduria type 1, homocystinuria, isovaleric acidaemia, long-chain hydroxyacyl CoA dehydrogenase deficiency and maple syrup urine disease are all inborn errors of metabolism that can be detected through newborn bloodspot screening. This evalu
Externí odkaz:
https://doaj.org/article/01a706f32667490986e16f93de99131e
Publikováno v:
JIMD Reports, Vol 52, Iss 1, Pp 72-78 (2020)
JIMD Reports
JIMD Reports
Earwax was investigated as a source to identify patients' different inborn errors of metabolism (IEMs). Acylcarnitines, amino acids, and guanidino metabolites were measured from 28 treated patients with 11 different metabolic disorders including 3 or
Autor:
James R. Bonham, Rachel S. Carling, Martin Lindner, Leifur Franzson, Rolf Zetterstrom, Francois Boemer, Roberto Cerone, Francois Eyskens, Laura Vilarinho, David M. Hougaard, Peter C.J.I. Schielen
Publikováno v:
International Journal of Neonatal Screening, Vol 4, Iss 1, p 8 (2018)
While the early and asymptomatic recognition of treatable conditions offered by newborn screening confers clear health benefits for the affected child, the clinical referral of patients with screen positive results can cause significant harm for some
Externí odkaz:
https://doaj.org/article/837ea6b8f3d24b3bb8f382d278eb14b8
Akademický článek
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Publikováno v:
RSC Advances. 9:17791-17800
Radix Scrophulariae, a traditional Chinese herb, is used to treat various diseases, including H2O2-induced apoptosis in cardiomyocytes, HaCaT cells, hyperuricaemia, and depression. This study screened metabolites, proteins and common pathways to bett
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 99-104 (2017)
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 99-104 (2017)
Children with inherited metabolic disorders (IMD) who are dependent on tube feeding and require a protein restriction are commonly fed by ‘modular tube feeds’ consisting of several ingredients. A longitudinal, prospective two-phase study, conduct
Autor:
Peter C. J. I. Schielen, Rolf Zetterström, David M. Hougaard, Rachel S Carling, Martin Lindner, James R. Bonham, Laura Vilarinho, Roberto Cerone, François Eyskens, François Boemer, Leifur Franzson
Publikováno v:
International Journal of Neonatal Screening, Vol 4, Iss 1, p 8 (2018)
International Journal of Neonatal Screening
International Journal of Neonatal Screening; Volume 4; Issue 1; Pages: 8
International Journal of Neonatal Screening
International Journal of Neonatal Screening; Volume 4; Issue 1; Pages: 8
While the early and asymptomatic recognition of treatable conditions offered by newborn screening confers clear health benefits for the affected child, the clinical referral of patients with screen positive results can cause significant harm for some
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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SummaryWhat is known and objective Carglumic acid is a structural analogue of human N-acetylglutamate, which has become an alternative therapeutic option for hyperammonaemia in organic acidaemias such as isovaleric acidaemia, methylmalonic acidaemia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13ce6787dba81d64fc8283bb34257ac4
https://www.zora.uzh.ch/id/eprint/160696/
https://www.zora.uzh.ch/id/eprint/160696/