Results 121 to 130 of about 19,626,692 (182)

Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles

Metabolites
Methylmalonic acidemia (MMA), propionic acidemia (PA), and cobalamin C deficiency (cblC) share a defect in propionic acid metabolism. In addition, cblC is also involved in the process of homocysteine remethylation.
Anna Sidorina, Giulio Catesini, Elisa Sacchetti, Cristiano Rizzo, Carlo Dionisi-Vici   +4 more
doaj   +1 more source

Synthesis and Characterization of Fluorescent Cobalamin (CobalaFluor) Derivatives for Imaging

, 2016
Fluorescent derivatives of cobalamin have been prepared by linking fluorophores to cobalamin through a propylamide spacer. Fluorescein, naphthofluorescein, and Oregon Green derivatives have been prepared in good yield by reaction of the fluorophore NHS ...
Patrick R. Pinson (3063399), Michelle J. Cannon (3063393), Charles B. Grissom (2368081), John D. Munger (3063402), Claudia C. Smeltzer (3063396), Frederick G. West (2944569)   +5 more
core   +1 more source

Rapid Improvement of Hyperpigmentation, Growth, and Developmental Milestones With High‐Dose Hydroxocobalamin, Betaine, and Folinic Acid Treatment: The First Patient With Cobalamin G Deficiency in Taiwan

JIMD Reports
In this report, we present the case of a 16‐month‐old patient who was diagnosed with cobalamin G deficiency at 4 months of age via whole exome sequencing by detecting compound heterozygous variants of uncertain significance (VUS) in the MTR gene: (1) c ...
Chi‐Tang Wu, Shih‐Ju Huang, Chu‐Chin Chen, Pao‐Chin Chiu   +3 more
doaj   +1 more source

Relationship between cobalamin deficiency and delirium in elderly patients undergoing cardiac surgery

, 2015
Utkan Sevuk,1 Erkan Baysal,2 Nurettin Ay,3 Yakup Altas,2 Rojhat Altindag,2 Baris Yaylak,2 Vahhac Alp,3 Ertan Demirtas4 1Department of Cardiovascular Surgery, Diyarbakir Gazi Yasargil Education and Research Hospital, Diyarbakir, 2Department of Cardiology,
Altindag R, Altas Y, Yaylak B, Ay N, Sevuk U, Alp V, Baysal E, Demirtas E   +7 more
core  

I deficit di vitamina B12 di origine materna nel neonato: sfide attuali e future = Neonatal cobalamin deficiency secondary to maternal causes: today and future challenges

, 2023
Cobalamin is essential for infant neurodevelopment; high levels of propionylcarnitine, methylmalonic acid and/or homocysteine at expanded newborn screening allow the identification of maternal secondary deficiencies.
D. Tonduti, E. Verduci, C. Montanari, G. Zuccotti, M. Gambino, L. Alberti, S. Lucchi, E. Bonaventura, A. Bosetti, C. Sertori, C. Cereda, M. Tosi, L. Fiori, I. Degrassi   +13 more
core  

The regulatory roles of liver and kidney in cobalamin (vitamin B₁₂) metabolism in the rat: the uptake and intracellular binding of cobalamin and the activity of the cobalamin-dependent enzymes in response to varying cobalamin supply

, 1984
The regulatory roles of liver and kidney in cobalamin (vitamin B₁₂) metabolism in the rat: the uptake and intracellular binding of cobalamin and the activity of the cobalamin-dependent enzymes in response to varying cobalamin ...
EPW Bowman (15815105), Julie Owens (13077036), AM Treston (15815102), JSD Scott (15815099), WGE Cooksley (15814988)   +4 more
core  

Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia

BMC Nephrology
Background The etiology of nephrotic syndrome can vary, with underlying metabolic diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive inborn error of metabolism caused by mutations in the MMACHC gene, resulting in ...
Halil Tuna Akar, Harun Yıldız, Zeynelabidin Öztürk, Deniz Karakaya, Abdullah Sezer, Asburçe Olgaç   +5 more
doaj   +1 more source

Maculopathy and Retinal Degeneration in Cobalamin C Methylmalonic Aciduria and Homocystinuria [PDF]

Archives of Ophthalmology, 2005
Efthymia K, Tsina, Deborah L, Marsden, Ronald M, Hansen, Anne B, Fulton   +3 more
openaire   +2 more sources

Dementia, diarrhea, desquamating shellac-like dermatitis revealing late-onset cobalamin C deficiency

JAAD Case Reports, 2018
Robert Christopher Gilson, BS, Luke Wallis, BS, Jenny Yeh, MD, Robert T. Gilson, MD   +3 more
doaj   +1 more source

The relationship between serum cobalamin, folic acid, and homocysteine and the risk of post-cardiac surgery delirium

, 2019
Maryam Vahdat Shariatpanahi,1 Aynaz Velayati,2 Seyed Ali Jamalian,3 Mehdi Babevaynejad,4 Zahra Vahdat Shariatpanahi21Department of Psychiatry, Faculty of Medicine, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran; 2National Nutrition and ...
Jamalian SA, Vahdat Shariatpanahi Z, Babevaynejad M, Vahdat Shariatpanahi M, Velayati A   +4 more
core