Results 21 to 30 of about 8,712 (196)

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

BMC Nephrology
Halil Tuna Akar, Harun Yıldız, Zeynelabidin Öztürk, Deniz Karakaya, Abdullah Sezer, Asburçe Olgaç   +5 more
doaj   +4 more sources

Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency [PDF]

Annals of Neurology, 2001
AbstractTwo adult brothers, one documented to have methylmalonic acidemia with homocystinuria, or cobalamin C deficiency, after autopsy, displayed severe but divergent neurological presentations. One exhibited a myelopathy and the other chronic endocrine problems (Schmidt's syndrome) followed by a neuropsychiatric and dementing disorder owing to ...
James M. Powers, David S. Rosenblatt, Robert E. Schmidt, Anne H. Cross, Joseph T. Black, Ann B. Moser, Hugo W. Moser, Daniel J. Morgan   +7 more
openalex   +3 more sources

Euglycemic Diabetic Ketoacidosis Related to SGLT2 Inhibitor Use in a Patient With Cobalamin C Deficiency and Diabetes

Annals of Internal Medicine: Clinical Cases, 2023
A 24-year-old woman with cobalamin C deficiency (CblCD), autoimmune thyroiditis, and recently diagnosed diabetes mellitus presented with weight loss, emesis, and abdominal pain.
Camilia Kamoun, Jaclyn Tamaroff, Sanmati Cuddapah, Marc Yudkoff, Shana McCormack, Jessica I. Gold   +5 more
doaj   +2 more sources

The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency. [PDF]

Pediatr Nephrol, 2022
Wood WD, Elmaghrabi A, Gotway G, Wolf MTF.   +3 more
europepmc   +3 more sources

Clinical and genetic characteristics of late-onset cobalamin C deficiency: A multicenter study in northern China. [PDF]

Intractable Rare Dis Res
Zhang H, Wei Y, Sun Y, Zhang Y, Wang Z, Zou H, Da Y, Zhao Z, Zhang Z, Wu G, Zhao W, Tian C, Yan C, Wang C, Zhao Y.   +14 more
europepmc   +3 more sources

Vitamin B12 deficiency in a young male with Imerslund-Gräsbeck syndrome: case report [PDF]

Frontiers in Pediatrics
Imerslund-Gräsbeck syndrome (IGS) is a rare genetic disorder characterized by selective vitamin B12 deficiency co-existing with asymptomatic proteinuria.
Lina Xing, Yujie Guo, Yang Li, Xuquan Zhou, Fengru Lin, Yan Wang   +5 more
doaj   +2 more sources

Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report. [PDF]

Exp Ther Med, 2017
Chen Q, Bao H, Wu H, Zhao S, Huang S, Zhao F.   +5 more
europepmc   +3 more sources

Cobalamin C Deficiency: Case Report of Two Different Clinical Presentations

Journal of Neurology and Experimental Neuroscience, 2016
Mehmet Gündüz, Özlem Ünal, Birce Dilge Taşkın, Zeynep Selen Karalök   +3 more
openalex   +3 more sources

Case Report: Membranous Nephropathy Secondary to Cobalamin C Disease

Frontiers in Medicine, 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.
Qiang Wang, Qi Wang, Yanxia Gao, Chenquan Tang, Zhaoli Gao, Zhao Hu   +5 more
doaj   +1 more source

Response of Human Glioblastoma Cells to Vitamin B12 Deficiency: A Study Using the Non-Toxic Cobalamin Antagonist

Biology, 2021
The most important biological function of vitamin B12 is to accomplish DNA synthesis, which is necessary for cell division. Cobalamin deficiency may be especially acute for rapidly dividing cells, such as glioblastoma cells.
Zuzanna Rzepka, Jakub Rok, Mateusz Maszczyk, Artur Beberok, Justyna Magdalena Hermanowicz, Dariusz Pawlak, Dorota Gryko, Dorota Wrześniok   +7 more
doaj   +1 more source