Web4 aug. 2024 · Methylmalonic acidemia (MMA) is a severe, heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism with a poor … Web18 jul. 2008 · Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature Radmanesh, Alireza; Zaman, Talieh; Ghanaati, Hossein; Molaei, Sanaz; Robertson, Richard; Pediatric Radiology, Volume 38 (10) – Jul 18, 2008 Read Article Download PDF Share Full Text for Free (beta) 8 pages Article Details …

Propionic acidemia Radiology Reference Article

Web2 sep. 2014 · Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid … Web9 feb. 2016 · Methylmalonic acid (MMA) is a compound produced in very small amounts during amino acid metabolism. Increased production of MMA occurs in vitamin B12 … new york full hd

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Web30 mrt. 1995 · A variety of radiological abnormalities have been detected in children with methylmalonic acidemia; ventricular dilation and cortical atrophy are the most common … Web1 jan. 2012 · Introduction. Methylmalonic acidemia (MMA) is a rare autosomal recessive disease that is caused by mutations in several different genes. Briefly, isoleucine, valine, … Web25 aug. 2024 · 一、一般概述 甲基丙二酸血症(methylmalonic acidemia，MMA)又称甲基丙二酸尿症(Methylmalonic aciduria)，是我国最常见的常染色体隐性遗传的有机酸代谢病。 MMA 由甲基丙二酰辅酶 A 变位酶(methylmalonyl CoA mutase，MCM)或其辅酶钴胺素(cobalamin， Cbl；也即维生素 B12，VitB12) 代谢缺陷所导致。 根据酶缺陷类型，可以 … milford fabricating