Zobrazeno 1 - 10
of 505
pro vyhledávání: '"Isovaleric acidemia"'
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)
ABSTRACT Background Newborn screening (NBS) for isovaleric acidemia (IVA) is implemented via tandem mass spectrometry (MS/MS), but false‐positive results are still common. In addition, NBS for IVA is limited by a lack of suitable biomarkers, especi
Externí odkaz:
https://doaj.org/article/3865d79603d348509ff5d8bfeb4e1fe8
Autor:
Mahtab Ordooei, Razieh Fallah, Maryam Saeida-Ardekani, Fahimeh Soheilipour, Mahdieh Yavari, Mahta Mazaheri
Publikováno v:
Case Reports in Clinical Practice, Vol 9, Iss 1 (2024)
The deficiency of isovaleryl-CoA dehydrogenase leads to an inborn recessive error of leucine metabolism named isovaleric acidemia (IVA). Its presentation may be either in the neonatal period as an acute episode of metabolic acidosis or later as a “
Externí odkaz:
https://doaj.org/article/326cea203bb64544967b40b7b6e484b6
Publikováno v:
International Archives of Integrated Medicine. Dec2017, Vol. 4 Issue 12, p214-217. 4p. 1 Color Photograph, 1 Chart, 1 Graph.
Autor:
Sag, Elif1, Cebi, Alper Han2, Kaya, Gulay3, Karaguzel, Gulay4, Cakir, Murat1 muratcak@hotmail.com
Publikováno v:
Pediatric Gastroenterology, Hepatology & Nutrition. Mar2017, Vol. 20 Issue 1, p61-64. 4p.
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 1236-1248 (2023)
Isovaleric acidemia (IVA), due to isovaleryl-CoA dehydrogenase (IVD) deficiency, results in the accumulation of isovaleryl-CoA, isovaleric acid and secondary metabolites. The increase in these metabolites decreases mitochondrial energy production and
Externí odkaz:
https://doaj.org/article/d4641ebee45f45a380b5cb516ca7d913
Autor:
Rachel S. Carling, Katy Hedgethorne, Anupam Chakrapani, Patricia L. Hall, Nick Flynn, Toby Greenfield, Stuart J. Moat, Joshua Ssali, Lynette Shakespeare, Nazia Taj, Teresa H. Y. Wu, Mark Anderson, Arunabha Ghosh, Hugh Lemonde, Germaine Pierre, Mark Sharrard, Sreevidya Sreekantam, James R. Bonham
Publikováno v:
International Journal of Neonatal Screening, Vol 10, Iss 1, p 24 (2024)
Since the UK commenced newborn screening for isovaleric acidemia in 2015, changes in prescribing have increased the incidence of false positive (FP) results due to pivaloylcarnitine. A review of screening results between 2015 and 2022 identified 24 t
Externí odkaz:
https://doaj.org/article/871fb498534349d08dd2216dbad7b8be
Autor:
Jin Min Cho1, Beom Hee Lee1,2, Gu-Hwan Kim2, Yoo-Mi Kim1, Jin-Ho Choi1, Han-Wook Yoo1,2 hwyoo@amc.seoul.kr
Publikováno v:
Korean Journal of Pediatrics. Aug2013, Vol. 56 Issue 8, p351-354. 4p.
Akademický článek
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Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
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Autor:
Ordooei, Mahtab, Fallah, Razieh, Saeida-Ardekani, Maryam, Soheilipour, Fahimeh, Yavari, Mahdieh, Mazaheri, Mahta
Publikováno v:
Case Reports in Clinical Practice; Jan/Feb2024, Vol. 9 Issue 1, p3-5, 3p