Results 151 to 160 of about 12,610 (204)

Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia. [PDF]

Front Genet
Xiao D, Shi C, Zhang Y, Li S, Ye Y, Yuan G, Miu T, Ma H, Diao S, Su C, Li Z, Li H, Zhuang G, Wang Y, Lu F, Gu X, Zhou W, Xiao X, Huang W, Wei T, Hao H.   +20 more
europepmc   +1 more source

AB164. Methylmalonic acidemia/propionic acidemia in Taiwan.

, 2015
Tzu-Hung Chu, Yin‐Hsiu Chien, Hsiang‐Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chinsu Liu, Chih‐Jou Lai, Chuan-Chi Chiang, Chia‐Feng Yang, Wuh‐Liang Hwu, Shuan‐Pei Lin, Dau‐Ming Niu   +11 more
openalex   +1 more source

General Anesthesia for a Child With Methylmalonic Acidemia Undergoing Oral Care and Dental Treatment Before Kidney Transplantation. [PDF]

Anesth Prog
Hano K, Kato M, Miyajima R, Kameyama I, Oshima Y, Tsukamoto M, Yokoyama T.   +6 more
europepmc   +1 more source

Association of Methylmalonic Acidemia and Erythema Nodosum [PDF]

Iranian Journal of Medical Sciences, 2011
Zohre Karamizadeh, Setilla Dalili, Hamdollah, Gholam Hossein Amirhakimi   +3 more
doaj  

Concurrent combined methylmalonic acidemia and homocystinuria with down syndrome in a Chinese preschool Child: An in-depth case report and literature review. [PDF]

Heliyon
Dong R, Liu C, Liu Y, Zhang H, Liu G, Liu Y, Gai Z.   +6 more
europepmc   +1 more source

Methylmalonic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder (an Iranian pediatric case series).

, 2013
Parvaneh Karimzadeh, Narjes Jafari, Farzad Ahmad Abadi, Sayena Jabbedari, Mohammad-Mahdi Taghdiri, Hamid Nemati, Sasan Saket, Seyed-Fakhreddin Shariatmadari, Mohammad-Reza Alaee, Mohammad Ghofrani, Seyed Hassan Tonekaboni   +10 more
openalex   +1 more source

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Methylmalonic acidemia

European Journal of Pediatrics, 1978
A patient presenting with severe metabolic acidosis accompanied by hyperglycinemia, hyperuricemia, hypoglycemia and hypertammonemia is described. Metabolic acidosis was found to be due to accumulated methylmalonic acid and did not respond to vitamin B12 administration.
I, Matsuda, T, Terashima, J, Yamamoto, I, Akaboshi, S, Shinozuka, S, Hattori, N, Nagata, Y, Oka   +7 more
openaire   +2 more sources

Methylmalonic Acidemia

2017
Isolated methylmalonic acidemia (MMA) refers to a group of inborn errors of organic acid metabolism caused by impaired conversion of methylmalonyl-CoA to succinyl-CoA. Individuals with MMA experience both acute and chronic neurological complications. The pathophysiology likely reflects impaired energy metabolism in the mitochondria leading to neuronal ...
Siddharth Srivastava, Jeffrey Chinsky
openaire   +1 more source