Results 61 to 70 of about 5,012,650 (270)

Algorithm for the early diagnosis of vitamin B12 deficiency in elderly people

Nutrición Hospitalaria, 2013
Background: The elderly population is particularly at risk for developing vitamin B12-deficiency. Serum cobalamin does not necessarily reflect a normal B12 status. The determination of methylmalonic acid is not available in all laboratories.
Gonzalo Palacios, Ricardo Sola, Laura Barrios, Klaus Pietrzik, Manuel J. Castillo, Marcela González-Gross   +5 more
doaj   +1 more source

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

Orphanet Journal of Rare Diseases, 2021
Background Methylmalonic acidemia is an inherited organic acid metabolic disease. It involves multiple physiological systems and has variable manifestations. The primary causative gene MMUT carries wide range of mutations, and one of them, c.1663G > A (p.
Lili Liang, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Yongguo Yu, Xuefan Gu, Lianshu Han   +23 more
doaj   +1 more source

Folate catabolites in spot urine as non-invasive biomarkers of folate status during habitual intake and folic acid supplementation. [PDF]

, 2013
Folate status, as reflected by red blood cell (RCF) and plasma folates (PF), is related to health and disease risk. Folate degradation products para-aminobenzoylglutamate (pABG) and para-acetamidobenzoylglutamate (apABG) in 24 hour urine have recently ...
A Lobo, A Schulze, AA Sokoro, AA West, AC Verkleij-Hagoort, AD Smith, Astrid Rauh-Pfeiffer, B Hooshmand, B Shane, Berthold Koletzko, DB Matchar, Diego Moretti, DL McKay, DS Wald, EC Witte, FL Geoghegan, H Bartels, H Bozbas, H Refsum, HA Kim, Hans Demmelmair, J McPartlin, J Seppala, JF Gregory, JF Gregory III, JF Gregory III, JF Gregory III, JF Gregory III, JJ Tomaszewski, JM Wolfe, K Pietrzik, KC Scott, KS Crider, L Hao, LA Houghton, LE Daly, M Ebbing, M Herrmann, MA Caudill, MA Caudill, Mareile Niesser, Marola van Lipzig, PA Kownacki-Brown, R Hannisdal, R Prinz-Langenohl, R Prinz-Langenohl, RA Jacob, RF Minchin, S Bart Sr, S Mönch, S O’Broin, S-C Chuang, SA Harris, SJ Mann, TE Stites, Thea Weith, U Ericson, V Veeranna, Wolfgang Peissner, Wouter Vaes, YI Kim, Zulfiqar A. Bhutta   +61 more
core   +3 more sources

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

Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders [PDF]

, 2017
: Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of a number of diseases and conditions. Oxidative stress occurs once the antioxidant defenses of the body become overwhelmed and are no longer able to detoxify ...
Angermuller, Artuch, Brismar, Calabresi, Carre, Duarte, El-Bassyouni, Fenton, Hayashi, Krahenbuhl, Lindblad, Manoli, Manoli, Martin, McMurry, Moser, Reza Rezvani, Royes, Schrakamp, Scriver, Taneka, Trinh, Van Bakel, Velema, Wilke, Williams   +25 more
core   +1 more source

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

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

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

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.
Dale E. Bauman, W. James Croom, C.L. Davis   +2 more
openaire   +3 more sources

Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations

International Journal of Neonatal Screening, 2022
Wisconsin’s newborn screening program implemented second-tier testing on specimens with elevated propionylcarnitine (C3) to aid in the identification of newborns with propionic and methylmalonic acidemias.
Patrice K. Held, Emily Singh, Jessica Scott Schwoerer   +2 more
doaj   +1 more source