Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease
AJ Esser, S Mukherjee, IA Dereven'kov, SV Makarov… - Iscience, 2022 - cell.com
Nutritional deficiency and genetic errors that impair the transport, absorption, and utilization
of vitamin B 12 (B 12) lead to hematological and neurological manifestations. The cblC …
of vitamin B 12 (B 12) lead to hematological and neurological manifestations. The cblC …
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment
Z Chen, H Dong, Y Liu, R He, J Song, Y Jin… - Orphanet Journal of …, 2022 - Springer
Background cblC deficiency is the most common type of methylmalonic aciduria in China.
Late-onset patients present with various non-specific symptoms and are usually …
Late-onset patients present with various non-specific symptoms and are usually …
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency
WD Wood, A Elmaghrabi, G Gotway, MTF Wolf - Pediatric Nephrology, 2022 - Springer
Abstract Background Cobalamin C (cblC), a vitamin B12 processing protein, plays a crucial
role in metabolism for the conversion of homocysteine to methionine and methylmalonyl …
role in metabolism for the conversion of homocysteine to methionine and methylmalonyl …
Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect
G Olivieri, B Greco, S Cairoli, G Catesini… - Journal of Inherited …, 2024 - Wiley Online Library
Abstract Cobalamin C (Cbl‐C) defect causes methylmalonic acidemia, homocystinuria,
intellectual disability and visual impairment, despite treatment adherence. While …
intellectual disability and visual impairment, despite treatment adherence. While …
Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes
L Hao, S Ling, S Ding, W Qiu, H Zhang, K Zhang… - Pediatric …, 2024 - nature.com
Background Methylmalonic acidemia (MMA) is the most common organic acidemia in China,
with cblC (cblC-MMA) and mut (mut-MMA) being the predominant subtypes. The present …
with cblC (cblC-MMA) and mut (mut-MMA) being the predominant subtypes. The present …
Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis
N Hwang, JH Jang, EH Cho, R Choi… - … Genetics & Genomic …, 2021 - Wiley Online Library
Background Combined methylmalonic acidemia and homocystinuria is a rare inherited
disorder of intracellular cobalamin metabolism caused by biallelic variants in one of the …
disorder of intracellular cobalamin metabolism caused by biallelic variants in one of the …
Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria
Y Liu, Z Chen, L Kang, R He, J Song, Y Liu, C Shi… - Plos one, 2022 - journals.plos.org
Background Methylmalonic aciduria (MMA), a rare inherited disorder, is the most common
organic aciduria in China, and prenatal diagnosis has contributed to its prevention …
organic aciduria in China, and prenatal diagnosis has contributed to its prevention …
A Mendelian randomization study of the entire phenome to explore the causal links between epilepsy
W Zhang, LM Zhang, L Zhi, J Qi, J He - Brain and Behavior, 2024 - Wiley Online Library
Objective The causes and triggering factors of epilepsy are still unknown. The results of
genome‐wide association studies can be utilized for a phenome‐wide association study …
genome‐wide association studies can be utilized for a phenome‐wide association study …
Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report
Q Hao, B Jiang, Y Zhao, Z Hu - BMC nephrology, 2024 - Springer
Background Combined methylmalonic acidemia (MMA) and hyperhomocysteinemia,
cobalamin C (cblC) type, also named cblC deficiency is a rare autosomal recessive genetic …
cobalamin C (cblC) type, also named cblC deficiency is a rare autosomal recessive genetic …
Serum differential proteomic profiling of patients with isolated methylmalonic acidemia by iTRAQ
S Li, C Shi, Y Cai, X Gu, H Xiong, X Liu, Y Zhang… - Frontiers in …, 2022 - frontiersin.org
Isolated methylmalonic acidemia (MMA) is an inherited organic acid metabolic disorder in
an autosomal recessive manner, caused by mutations in the methylmalonyl coenzyme A …
an autosomal recessive manner, caused by mutations in the methylmalonyl coenzyme A …