Results 91 to 100 of about 8,189 (189)

Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report. [PDF]

J Korean Med Sci, 2023
Lee JK, Oh A.
europepmc   +1 more source

Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features. [PDF]

Cureus, 2023
Diogo R, Rua IB, Ferreira S, Nogueira C, Pereira C, Rosmaninho-Salgado J, Diogo L.   +6 more
europepmc   +1 more source

Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series

Neuropsychiatric Disease and Treatment, 2019
Sheng-jun Wang, Chuan-zhu Yan, Bing Wen, Yu-ying Zhao Department of Neurology, Qilu Hospital, Shandong University, Jinan, China Objective: The Cobalamin C (cblC) disease is an inborn error of cobalamin metabolism.
Wang S, Yan C, Wen B, Zhao Y
doaj  

Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection. [PDF]

Clin Kidney J, 2023
Rafat C, Doreille A, Dancer M, Werion A, Benoist JF, Raymond L, Mesnard L.   +6 more
europepmc   +1 more source

Case Report: A Case of Gait Disorder Due to Combined Methylmalonic Aciduria and Homocystinuria

Journal of Rehabilitation, 2000
This disorder is too rare that about 100 patients have been reported in the world. In this condition a liver enzyme (methylmalonyl CoA mutase) which should carry out one of many thousands of chemical processes that turn protein into energy or body ...
Firouzeh Sajedi
doaj  

Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families. [PDF]

Iran Biomed J, 2023
Jafari M, Karami F, Setoodeh A, Rahmanifar A, Bagherian H, Alaei MR, Rohani F, Zeinali S.   +7 more
europepmc   +1 more source

Altered expression and posttranslational modification of neurofilaments in methylmalonic aciduria

, 2013
Neurofilaments (NF), the main components of axonal cytoskeleton, are known to be involved in several neurodegenerative diseases. It has been reported that methylmalonate and propionate affect phosphorylation of NFs. In an in vitro model for methylmalonic
Braissant, O., Ballhausen, D., Cung, H.P., Zavadakova, P.   +3 more
core   +1 more source

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series. [PDF]

Front Neurol, 2023
Almudhry M, Saini AG, Al-Omari MA, Sharma Y, Nouri MN, Rupar CA, Prasad C, Yu AC, Attri SV, Prasad AN.   +9 more
europepmc   +1 more source

Atypical methylmalonic aciduria : frequency of mutations in the methylmalonyl-CoA epimerase (MCEE) gene

, 2007
Methylmalonic aciduria results from defects in the enzyme methylmalonyl-CoA mutase and from defects in the synthesis of the enzyme's cofactor adenosylcobalamin.
Gradinger, Abigail.
core  

Assessment of visual function in children with methylmalonic aciduria and homocystinuria

, 2005
The aim of this study was to assess various aspects of visual function in 6 patients (age range: 9 months to 7 years and 8 months) with methylmalonic aciduria and homocystinuria.
Mercuri E., Ricci D., Pane M., Deodato F.   +3 more
core   +1 more source