Results 61 to 70 of about 1,126 (118)

Late-onset renal TMA and tubular injury in cobalamin C disease: a report of three cases and literature review

BMC Nephrology
Background Mutation of MMACHC gene causes cobalamin C disease (cblC), an inherited metabolic disorder, which presents as combined methylmalonic aciduria (MMA-uria) and hyperhomocysteinaemia in clinical. Renal complications may also be present in patients
Daorina Bao, Hongyu Yang, Yanqi Yin, Suxia Wang, Yang Li, Xin Zhang, Tao Su, Rong Xu, Chunyue Li, Fude Zhou   +9 more
doaj   +1 more source

Long-term outcome of CblC deficiency complicated with pulmonary hypertension

Orphanet Journal of Rare Diseases
Objective Pulmonary Hypertension (PH) in patients with cblC deficiency is one of the rare but lethal complications. This study aimed to described its characteristics and long-term outcome.
Si Ding, Yuxin Deng, Lili Hao, Wenjuan Qiu, Shengnan Wu, Yongxing Chen, Ting Chen, Xia Zhan, Lianshu Han, Xianting Jiao   +9 more
doaj   +1 more source

Rapid diagnosis, treatment and follow-up of pedigrees with late-onset methylmalonic aciduria and homocystinuria cobalamin C type

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To summarize phenotype, treatment principles and prognosis of 4 patients from 2 pedigrees with late-onset methylmalonic aciduria (MMA) and homocystinuria cobalamin C (cblC) type, so as to explore the pathophysiological mechanism of this disease.
Xiao-hui DUAN, Ying HAO, Wei-hong GU, Jin ZHANG, Ren-bin WANG   +4 more
doaj  

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

Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia

Frontiers in Genetics
ObjectiveTo accurately verify the pathogenicity of variants of uncertain significance (VUS) in MUT and MMACHC genes through mass spectrometry and silico analysis.MethodsThis multicenter retrospective study included 35 participating units (ClinicalTrials ...
Dongfan Xiao, Dongfan Xiao, Dongfan Xiao, Congcong Shi, Congcong Shi, Congcong Shi, Yinchun Zhang, Yinchun Zhang, Sitao Li, Sitao Li, Sitao Li, Yuhao Ye, Guilong Yuan, Taohan Miu, Haiyan Ma, Shiguang Diao, Chaoyun Su, Zhitao Li, Haiyan Li, Guiying Zhuang, Yuanli Wang, Feiyan Lu, Xia Gu, Xia Gu, Xia Gu, Wei Zhou, Xin Xiao, Xin Xiao, Xin Xiao, Weiben Huang, Tao Wei, Hu Hao, Hu Hao, Hu Hao   +33 more
doaj   +1 more source

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type

Heliyon
Methylmalonic aciduria and homocystinuria, cobalamin C type (cblC), constitute the most common inborn error of intracellular cobalamin metabolism. Here, we report the case of a 6-month-old child, presenting severe subacute neurological decline associated
Etienne Mondesert, Bastien Baud, Agathe Roubertie, Jean-François Benoist, Pierre-Edouard Grillet, Jean-Paul Cristol, Marie Céline Francois-Heude, Manuel Schiff, Stéphanie Badiou   +8 more
doaj   +1 more source

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

Molecular 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, Charlotte Backelin, Anders Thoren, Niklas Bergh, Jennifer L. Sloan, Irini Manoli, Charles P. Venditti, Göran Dellgren   +7 more
doaj   +1 more source

Clinical application value of pre‐pregnancy carrier screening in Chinese Han childbearing population

Molecular Genetics & Genomic Medicine
Background To explore the clinical application value of pre‐conception expanded carrier screening (PECS) in the Chinese Han ethnicity population of childbearing age.
Li Tan, Yuefan Qi, Peijuan Zhao, LanLan Cheng, Guo Yu, Dongmei Zhao, Yu Xia Song, Yun Gai Xiang   +7 more
doaj   +1 more source

Clinical features and outcomes of patients with cblC type methylmalonic acidemia carrying gene c.609G>A mutation. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban, 2021
Yu Y, Ling S, Shuai R, Qiu W, Zhang H, Liang L, Ji W, Liu Y, Gu X, Han L.   +9 more
europepmc   +1 more source

Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China. [PDF]

Ann Med
Mu J, Sun M, Li Y, Li P, Zou H.
europepmc   +1 more source