Results 31 to 40 of about 8,712 (196)

Crucial microscopic features leading to diagnosis of cobalamin C deficiency in a new‐born [PDF]

British Journal of Haematology, 2013
Jean‐François Lesesve, Véronique Latger‐Cannard   +1 more
openalex   +3 more sources

Rare cause of coronary artery ectasia in children: A case report of methylmalonic acidemia with hyperhomocysteinemia

Frontiers in Pediatrics, 2022
BackgroundMethylmalonic acidemia (MMA) with hyperhomocysteinemia is caused by cobalamin deficiency, mainly due to disturbance of cobalamin C (cblC) metabolism. Its clinical manifestations involve many organs.
Tu Juan, Chen Chao-ying, Li Hua-rong, Wan Ling   +3 more
doaj   +1 more source

Astrogliosis in an Experimental Model of Hypovitaminosis B12: A Cellular Basis of Neurological Disorders due to Cobalamin Deficiency

Cells, 2020
Cobalamin deficiency affects human physiology with sequelae ranging from mild fatigue to severe neuropsychiatric abnormalities. The cellular and molecular aspects of the nervous system disorders associated with hypovitaminosis B12 remain largely unknown.
Zuzanna Rzepka, Jakub Rok, Justyna Kowalska, Klaudia Banach, Justyna Magdalena Hermanowicz, Artur Beberok, Beata Sieklucka, Dorota Gryko, Dorota Wrześniok   +8 more
doaj   +1 more source

Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene—a case report

BMC Medical Genetics, 2020
Background Hereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations.
Jing Ruan, Bing Han, Junling Zhuang, Miao Chen, Fangfei Chen, Yuzhou Huang, Wenzhe Zhou   +6 more
doaj   +1 more source

Early‐onset Cobalamin C/D Deficiency: Epilepsy and Electroencephalographic Features [PDF]

Epilepsia, 2002
Summary:  Purpose: To describe epilepsy and EEG findings in the early‐onset cobalamin (Cbl) C/D deficiency, an inborn error of intracellular Cbl metabolism characterized by high plasma levels of methylmalonic acid, homocystine, and homocysteine.Methods: Type and frequency of seizures were studied in 10 patients (six boys and four girls) who underwent ...
BIANCHERI R., CERONE, ROBERTO, ROSSI A., SCHIAFFINO M. C., CARUSO U., MINNITI G., PERRONE M. V., TORTORI DONATI P., VENESELLI, EDVIGE MARIA   +8 more
openaire   +3 more sources

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment

Orphanet Journal of Rare Diseases, 2022
Background cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed.
Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li, Yao Zhang, Yanling Yang   +17 more
doaj   +1 more source

Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder

JIMD Reports, 2020
Combined methylmalonic aciduria and homocystinuria (cobalamin C deficiency, cblC) is a well‐described disorder of vitamin B12 metabolism caused by mutations in the MMACHC gene with multisystemic manifestations.
Ashley Wilson, Vivian Cruz, Jonathan B. Kronick   +2 more
doaj   +1 more source

A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans

FEBS Open Bio, 2014
In this study, we showed that cyanocobalamin dodecylamine, a ribose 5′-carbamate derivative of cyanocobalamin, was absorbed and accumulated to significant levels by Caenorhabditis elegans and was not further metabolized.
Tomohiro Bito, Yukinori Yabuta, Tsuyoshi Ichiyanagi, Tsuyoshi Kawano, Fumio Watanabe   +4 more
doaj   +1 more source

Case report: Desquamating dermatitis, bilateral cerebellar lesions in a late-onset methylmalonic acidemia patient

Frontiers in Neurology, 2023
IntroductionCobalamin C (cblC) deficiency is a rare hereditary disorder affecting intracellular cobalamin metabolism, primarily caused by mutations in MMACHC.
Qihua Chen, Jianguang Tang, Hainan Zhang, Lixia Qin   +3 more
doaj   +1 more source

Concurrent Cobalamin C and Plasminogen Deficiencies in a Patient with Chronic Thrombotic Microangiopathy

Nephron, 2023
<b><i>Background:</i></b> Although most patients with atypical hemolytic uremic syndrome (aHUS) have variants in genes participating in alternative complement pathways, rare variants in non-complement pathway-related genes, including <i>DGKE, INF2, MMACHC, PLG,</i> and <i>THBD</i>, have also been ...
Ahmet Burak, Dirim, Seda, Safak, Mehmet Cihan, Balci, Pelin, Ozyavuz, Nurane, Garayeva, Tarik Onur, Tiryaki, Ozgur Akin, Oto, Yasemin, Ozluk, Isin, Kilicaslan, Seyhun, Solakoglu, Ayse Serra, Artan, Halil, Yazici, Aydin, Turkmen, Savas, Ozturk   +13 more
openaire   +2 more sources