Results 111 to 120 of about 19,626,692 (182)

Severe pancytopenia at the presentation of Imerslund-Gräsbeck syndrome in a 23-month-old Italian boy

open access: yesItalian Journal of Pediatrics
Background Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by megaloblastic anemia due to selective cobalamin malabsorption and benign proteinuria.
Francesca Di Sario   +7 more
doaj   +1 more source

Cyanide Detoxification by the Cobalamin Precursor Cobinamide

open access: yes, 2006
Cyanide is a highly toxic agent that inhibits mitochondrial cytochrome-c oxidase, thereby depleting cellular ATP. it contributes to smoke inhalation deaths in fires and could be used as a weapon of mass destruction. Cobalamin (vitamin B12) binds cyanide
Immo E. Scheffler   +6 more
core   +1 more source

Absorbance Spectra of Cobalamin bound to Purified Zebrafish Cobalamin Binder.

open access: yes, 2012
Spectral characteristics of the zebrafish cobalamin binder in complex with hydroxo-cobalamin are shown. Spectral transition after addition of 15 mM histidine was recorded after 1, 3, 5, 12, 20, and 30 minutes of incubation at room temperature. The arrows
Eva Greibe (171188)   +2 more
core   +1 more source

Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation

open access: yesThe Turkish Journal of Pediatrics, 2013
Methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is the most frequent inborn error of vitamin B12metabolism. The clinical phenotype includes systemic symptoms and neurological decompensation.
Mustafa Kılıç   +7 more
doaj  

Late-onset cobalamin C defect with a rare MMACHC c.457 C > T variant: a case report and literature review

open access: yesBMC Pediatrics
Background Cobalamin C (cblC) defect, also referred to as combined methylmalonic acidemia and homocystinuria, is the most common inborn error of intracellular cobalamin metabolism.
Qingmei Huang   +4 more
doaj   +1 more source

Secretion of Zebrafish Cobalamin-binding Protein to the Ambient Water.

open access: yes, 2012
Five zebrafish were kept in 100 ml tapped water for six hours and content of cobalamin (A) and unsaturated cobalamin binding capacity (B) in the zebrafish ambient water was measured and compared to the values found in zebrafish protein extracts. Mean and
Eva Greibe (171188)   +2 more
core   +1 more source

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

open access: yesNeuropsychiatric 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  

Synthesis of Cobalamin Analogues Using Enzymatic and Chemical Modification Methods, and Subsequent Identification of Cobalamin Localisation in a Variety of Organisms [PDF]

open access: yes, 2017
Cobalamin, also known as vitamin B12, is an essential nutrient for many different organisms including mammals, fish, birds, nematodes, and a variety of bacteria. However, cobalamin is only synthesised by a few bacteria and archaea.
Nemoto-Smith, Emi H
core  

Severe heart failure in a unique case of cobalamin-C-deficiency resolved with LVAD implantation and subsequent heart transplantation

open access: yesMolecular Genetics and Metabolism Reports
IntroductionCobalamin c deficiency (cblC), an inborn error of vitamin B12 metabolism, is caused by mutations of the MMACHC gene. It usually leads to a multisystemic disease; 50% of all patients with cblC have various structural heart defects.
Clara Hjalmarsson   +7 more
doaj   +1 more source

A single rainbow trout cobalamin-binding protein stands in for three human binders

open access: yes, 2012
Cobalamin uptake and transport in mammals are mediated by three cobalamin-binding proteins: haptocorrin, intrinsic factor, and transcobalamin. The nature of cobalamin-binding proteins in lower vertebrates remains to be elucidated.
Højrup, Peter   +7 more
core   +1 more source

Home - About - Disclaimer - Privacy