Results 51 to 60 of about 13,373 (259)

A Coumarin-Based Fluorescent Probe as a Central Nervous System Disease Biomarker

Sensors, 2014
Homocysteine and methylmalonic acid are important biomarkers for diseases associated with an impaired central nervous system (CNS). A new chemoassay utilizing coumarin-based fluorescent probe 1 to detect the levels of homocysteine is successfully ...
Ann-Chee Yap, Ummi Affah Mahamad, Shen-Yang Lim, Hae-Jo Kim, Yeun-Mun Choo   +4 more
doaj   +1 more source

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

Frontiers in Pediatrics, 2021
Introduction: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare metabolic disease caused by biallelic variants in ACSF3 gene. The clinical phenotype is highly heterogeneous in this disorder, ranging from asymptomatic to severe symptoms.
Ping Wang, Ping Wang, Jianbo Shu, Jianbo Shu, Chunyu Gu, Chunyu Gu, Chunyu Gu, Xiaoli Yu, Jie Zheng, Jie Zheng, Chunhua Zhang, Chunquan Cai, Chunquan Cai, Chunquan Cai   +13 more
doaj   +1 more source

Generation of induced pluripotent stem cells named SMBCi019-A from a methylmalonic acidemia patient carrying the MMACHC mutations

Stem Cell Research, 2022
Methylmalonic acidemia(MMA) is an autosomal recessive hereditary disease caused by methylmalonyl-CoA mutase defect or its coenzyme cobalamin metabolism defect.
Jing Luan, Hui Zou, Yazhou Cui, Jing Wang, Zhenzhong Han, Genglin Zhang, Jinxiang Han   +6 more
doaj   +1 more source

Cyclic β-glucans at the bacteria–host cells interphase: One sugar ring to rule them all [PDF]

, 2018
Cyclic β‐1,2‐D‐glucans (CβG) are natural bionanopolymers present in the periplasmic space of many Proteobacteria. These molecules are sugar rings made of 17 to 25 D‐glucose units linked exclusively by β‐1,2‐glycosidic bonds.
Arce Gorvel, Vilma, Ciocchini, Andres Eduardo, Comerci, Diego José, Gorvel, Jean-Pierre, Guidolin, Leticia Soledad   +4 more
core   +1 more source

Mouse models for methylmalonic aciduria. [PDF]

PLoS ONE, 2012
Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA mutase (MCM). MMA is associated with significant morbidity and mortality, thus therapies are necessary to help improve quality ...
Heidi L Peters, James J Pitt, Leonie R Wood, Natasha J Hamilton, Joseph P Sarsero, Nicole E Buck   +5 more
doaj   +1 more source

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

Frontiers in Genetics, 2022
Background: The cobalamin C (cblC) defect, a common inborn disorder of cobalamin metabolism due to a genetic mutation in MMACHC, can cause combined methylmalonic acid and homocysteine accumulation in blood, urine, or both.
Siqi Cheng, Weihong Chen, Mingmin Zhao, Xing Xing, Lei Zhao, Bowen Ren, Na Li   +6 more
doaj   +1 more source

Methylmalonic Acid in Low-Fat Milk Syndrome

Journal of Dairy Science, 1981
The possible association between low-fat milk syndrome and methylmalonic acid accumulation in blood was investigated. Blood was sampled from the internal iliac artery of nine lactating dairy cows fed ad libitum roughage plus grain or high grain, restricted roughage diets.
W J, Croom, D E, Bauman, C L, Davis
openaire   +2 more sources

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Chronic Low‐Dose Unsymmetrical Dimethylhydrazine Exposure in Rats: Multiorgan Mechanisms and Biomarker Identification

Journal of Applied Toxicology, EarlyView.
ABSTRACT Unsymmetrical dimethylhydrazine (UDMH), a highly toxic rocket propellant with known multiorgan effects, requires urgent characterization of its chronic low‐dose toxicity. Using an integrated approach including exploratory transcriptomics (n = 3/group) and metabolomic (n = 4/group) approaches in male Sprague–Dawley rats exposed to high‐dose ...
Fuzhou Liu, Bing Liu, Keli Wang, Xiaoyu Wang, Zhen Sun, Xiaojuan Pan, Zengming Zhao   +6 more
wiley   +1 more source

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report

BMC Medical Genetics, 2020
Background Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalonic acid and homocysteine in blood ...
Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Lin-Qi Chen, Hai-Ying Wu, Xu-Qin Chen   +9 more
doaj   +1 more source