Results 31 to 40 of about 19,626,692 (182)

Luminal expression of cubilin is impaired in Imerslund-Gräsbeck syndrome with compound AMN mutations in intron 3 and exon 7

Haematologica, 2011
Juvenile megaloblastic anaemia 1 (OMIM # 261100) is a rare autosomic disorder characterized by selective cobalamin mal-absorption and inconstant proteinuria produced by mutations in either CUBN or AMN genes.
Fares Namour, Gabriele Dobrovoljski, Celine Chery, Sandra Audonnet, François Feillet, Wolfgang Sperl, Jean-Louis Gueant   +6 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

Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review

Metabolism Open
Background: Holocarboxylase Synthetase Deficiency (HCSD) is an uncommon autosomal recessive genetic disorder that manifests with symptoms such as metabolic acidosis, lethargy, hypotonia, seizures, and persistent rashes, typically emerging during infancy.
Ye Ren, Hongxing Dang, Yueqiang Fu, Chengjun Liu, Jing Li, Jinhua Cai   +5 more
doaj   +1 more source

Table_1_Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease.DOCX

, 2022
BackgroundMutation of MMACHC causes inherited cobalamin C disease with methylmalonic academia (MMA) and homocysteinemia. Renal complications may also be present in patients with this deficiency.
Zhao Hu (1308183), Zhaoli Gao (2835518), Yanxia Gao (614652), Qiang Wang (32383), Qi Wang (22418), Chenquan Tang (11981822)   +5 more
core   +1 more source

Structural insights into cobalamin loading and reactivation of human methionine synthase

Nature Communications
Human methionine synthase (MTR) is an essential enzyme of one carbon metabolism. Consisting of a catalytic N-half and a cobalamin binding C-half, MTR utilises this intricate organometallic cofactor in the methyl transfer from methyltetrahydrofolate to ...
Douglas S. M. Ferreira, Katie McLennan, Calum Diamond, Melanie Vollmar, Wasim Kiyani, D. Sean Froese, Jola Kopec, Henry J. Bailey, Rod Chalk, Arnaud Baslé, Jonathan M. Elkins, Jesse A. Coker, Wyatt W. Yue, Thomas J. McCorvie   +13 more
doaj   +1 more source

Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review

Children, 2021
Methylmalonic acidemia and homocystinuria cobalamin C (cblC) type is the most common inborn error of the intracellular cobalamin metabolism, associated with multisystem involvement and high mortality rates, especially in the early-onset form of the ...
Vasiliki Karava, Antonia Kondou, John Dotis, Georgia Sotiriou, Spyridon Gerou, Helen Michelakakis, Euthymia Vargiami, Marina Economou, Dimitrios Zafeiriou, Nikoleta Printza   +9 more
doaj   +1 more source

Prevalence of Dietary Supplement Use and Potential Medication Interactions Among Adults With Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to characterize the prevalence and correlates of dietary supplement use, identify commonly used supplements, and evaluate potential supplement–medication interactions among adults with systemic lupus erythematosus (SLE).
Sarah L. Patterson, Russell Ellyson, Jessica Fitzpatrick, Ghizlane Yaakoubi, Bradley Pearce, S. Sam Lim, Jinoos Yazdany, Laura C. Plantinga   +7 more
wiley   +1 more source

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant

BMC Veterinary Research, 2018
Background Three Komondor dogs in a small family and 3 sporadic cases exhibited a constellation of signs that included juvenile-onset of failure-to-thrive, inappetence, vomiting and/or diarrhea, and weakness.
John C. Fyfe, Shelby L. Hemker, Alycia Frampton, Karthik Raj, Peter L. Nagy, Kristi J. Gibbon, Urs Giger   +6 more
doaj   +1 more source

Exploiting Potential Probiotic Lactic Acid Bacteria Isolated from Chlorella vulgaris Photobioreactors as Promising Vitamin B12 Producers

Foods, 2023
Lactic acid bacteria (LAB) have been documented as potential vitamin B12 producers and may constitute an exogenous source of cobalamin for the microalga Chlorella vulgaris, which has been described as being able to perform vitamin uptake. Hence, there is
Mónica Ribeiro, Cláudia Maciel, Pedro Cruz, Helena Darmancier, Teresa Nogueira, Margarida Costa, Joana Laranjeira, Rui M. S. C. Morais, Paula Teixeira   +8 more
doaj   +1 more source

Biomass DNA: An Emerging Building Block for Advanced Materials

Advanced Materials, EarlyView.
Biomass DNA is rapidly emerging from its traditional role as a genetic blueprint to serve as a versatile abundant, highly programmable polymeric building block. This review highlights the transformation of macroscopic bulk biomass DNA into next generation of functional materials, spanning from dynamic hydrogels, sustainable bioplastics, and high ...
Yuwei Hu, Itamar Willner, Li Niu
wiley   +1 more source