Ethylmalonic Aciduria: Report of a new Case
نویسندگان
چکیده
منابع مشابه
ethylmalonic aciduria and report of one case from iran
this condition is due to deficiency in electron transport flavoprotein or electron transport fluvoprotein dehydrogenase.the clinical presentation is characteristic of fatty acid oxidation disorders. this disorder is poor prognostic and death in infancy is common.the central nervous system involving causes neurodevelopmental delay, hypotonia, and head lag. different type of seizures such as infa...
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valine metabolism, results from tissue accumulation and significant elevation of urinary excretion of 3hydroxyisobutyric acid. To date, 14 cases of 3-HiB-uria have been reported, the majority of which were male patients, including two sets of male twins, two brothers, and a brother-and-sister pair.1-7 The clinical course varies, from mild attacks of vomiting with normal brain and cognitive deve...
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ژورنال
عنوان ژورنال: Scholars Journal of Applied Medical Sciences
سال: 2020
ISSN: 2347-954X,2320-6691
DOI: 10.36347/sjams.2020.v08i02.036