Results 131 to 140 of about 452,408 (160)

Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients. [PDF]

Sci Rep
Fathi M, Khalilian S, Miryounesi M, Ghafouri-Fard S.   +3 more
europepmc   +1 more source

The complexome contextualizes proteomics data to fingerprint biological states and highlight perturbed functional modules in disease. [PDF]

NPJ Syst Biol Appl
Guharoy M, Adant I, Bird M, Botzki A, Collier J, Dehairs J, Derveaux S, Devos S, Goeminne G, Impens F, Jáñez Pedrayes A, Janky R, Maes R, Magalhães P, Maia TM, Meersseman W, Rymen D, Swinnen JV, Van Haver D, Verdegem D, Witters P, Cassiman D, Ghesquiere B.   +22 more
europepmc   +1 more source

Dissecting the role of vitamin B₁₂ metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries. [PDF]

Differentiation
Pinales BE, Palomino CE, Rosas-Acosta G, Francia G, Quintana AM.   +4 more
europepmc   +1 more source

Trauma-Focused Cognitive Behavioral Therapy Among Therapists Participating in Learning Collaboratives: Examining Two Implementation Strategies. [PDF]

Evid Based Pract Child Adolesc Ment Health
Espeleta HC, Kautz MM, Wade S, Swiecicki C, Hanson RF.   +4 more
europepmc   +1 more source

Genetic and Cellular Studies of Oxidative Stress in Methylmalonic Aciduria (MMA) Cobalamin Deficiency Type C (cblC) With Homocystinuria (MMACHC)

Human Mutation, 2009
Methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) is the most frequent genetic disorder of vitamin B12 metabolism.
Celia Pérez-Cerdá, Antonia Ribes, Lourdes R Desviat   +2 more
exaly   +5 more sources

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Treatment of Cobalamin C (cblC) Deficiency During Pregnancy

Journal of Inherited Metabolic Disease, 2010
AbstractObjectiveTo report the successful pregnancy of a woman with methylmalonic acidemia and hyperhomocysteinemia, cblC type [cobalamin C (cblC) deficiency] (MIM 277400).MethodRetrospective chart review.ResultsA 24‐year‐old woman presented at 14 weeks gestation with nausea, self‐restricted protein diet, and weight loss.
Grant A Mitchell, Catherine Brunel-Guitton, Marie Lambert   +2 more
exaly   +3 more sources

Glutathione metabolism in cobalamin deficiency type C (cblC)

Journal of Inherited Metabolic Disease, 2013
AbstractBackgroundMethylmalonic aciduria with homocystinuria, cblC defect, is the most frequent disorder of vitamin B12 metabolism. CblC patients are commonly treated with a multidrug therapy to reduce metabolite accumulation and to increase deficient substrates.
Anna, Pastore, Diego, Martinelli, Fiorella, Piemonte, Giulia, Tozzi, Sara, Boenzi, Gianna, Di Giovamberardino, Sara, Petrillo, Enrico, Bertini, Carlo, Dionisi-Vici   +8 more
openaire   +2 more sources

Plasma Exosomes From Healthy Individuals Could Protect Against Hippocampal Neuron Injury Induced by MMACHC Variants in Cobalamin (cblC) Deficiency

SSRN Electronic Journal, 2021
Background: Methylmalonic acid (MMA) combined with homocysteine (HCY) limits the survival and function of neurons during the development of cobalamin C (cblC) deficiency, yet no effective medication currently exists to ameliorate the damage. Methods: We designed a novel second-tier assay utilizing ultraperformance liquid chromatography-tandem mass ...
Zhou Wei, Huizhong Li, Heng Cai, Feng Suo, Jinxiu Song, Zhaoli Hu, Wan Wang, Maosheng Gu, Suhua Qi   +8 more
openaire   +1 more source

Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?

Molecular Genetics and Metabolism, 2023
In early-onset (EO) cblC deficiency (MMACHC), hydroxocobalamin dose-intensification (OHCBL-DI) improved biochemical and clinical outcome. In mammals, Cobalamin is reduced, in a reaction mediated by MMACHC. Pathogenic variants in MMACHC disrupt the synthesis pathway of methyl-cobalamin (MetCbl) and 5'-deoxy-adenosyl-cobalamin (AdoCbl), cofactors for ...
Scalais, Emmanuel, Geron, Christine, Pierron, Charlotte, Cardillo, Sandra, Schlesser, Vincent, Mataigne, Frederic, Borde, Patricia, Régal, Luc   +7 more
openaire   +3 more sources