Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: a case series and literature review
C Wang, D Li, F Cai, X Zhang, X Xu, X Liu… - European journal of …, 2019 - Elsevier
Cobalamin (cbl) C disease is a rare autosomal recessive inheritance disease, which is the
most common cobalamin metabolic disorder. Its clinical phenotype involves multiple …
most common cobalamin metabolic disorder. Its clinical phenotype involves multiple …
Microcephaly in neurometabolic diseases
W Kempińska, K Korta, M Marchaj, J Paprocka - Children, 2022 - mdpi.com
Neurometabolic disorders are an important group of diseases that mostly occur in neonates
and infants. They are mainly due to the lack or dysfunction of an enzyme or cofactors …
and infants. They are mainly due to the lack or dysfunction of an enzyme or cofactors …
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 …
Newborn screening for methylmalonic acidemia in a Chinese population: molecular genetic confirmation and genotype phenotype correlations
W Zhou, H Li, C Wang, X Wang, M Gu - Frontiers in genetics, 2019 - frontiersin.org
Background: Methylmalonic acidemia (MMA) incidence was evaluated based on newborn
screening in Xuzhou from November 2015 to December 2017, and the clinical, biochemical …
screening in Xuzhou from November 2015 to December 2017, and the clinical, biochemical …
Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency
X Liu, H Xiao, Y Yao, S Wang, H Zhang… - Frontiers in …, 2023 - frontiersin.org
Objective CblC deficiency, the most common cobalamin metabolic abnormality, is caused by
pathogenic variants in the MMACHC gene. The renal complications of this disease have …
pathogenic variants in the MMACHC gene. The renal complications of this disease have …
Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type
T Chen, L Liang, H Zhang, J Ye, W Qiu, B Xiao… - Orphanet Journal of …, 2021 - Springer
Background Combined methylmalonic acidemia and homocystinuria, cobalamin C type
(cblC defect) is the most common inborn error of cobalamin metabolism, and different …
(cblC defect) is the most common inborn error of cobalamin metabolism, and different …
Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases
R He, R Mo, M Shen, L Kang, J Song, Y Liu… - Orphanet Journal of …, 2020 - Springer
Abstract Background Cobalamin C deficiency (cblC) caused by the MMACHC mutations is
the most common type of the disorders of intracellular cobalamin metabolism. While the c …
the most common type of the disorders of intracellular cobalamin metabolism. While the c …
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report
RY Chen, XZ Li, Q Lin, Y Zhu, YY Shen, QY Xu… - BMC Medical …, 2020 - Springer
Background Disorders of the metabolism and absorption of vitamin B12 can lead to
decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase …
decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase …
Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations
W Lv, L Liang, X Chen, Z Li, D Liang, H Zhu… - Frontiers in …, 2022 - frontiersin.org
Noninvasive prenatal testing (NIPT) for monogenic disorders has been developed in recent
years; however, there are still significant technical and analytical challenges for clinical use …
years; however, there are still significant technical and analytical challenges for clinical use …
A comparative study of microRNAs in different stages of Eimeria tenella
L Zhang, L Chen, H Zhang, H Si, X Liu… - Frontiers in Veterinary …, 2022 - frontiersin.org
Apicomplexan parasites have divergent biogenesis machinery for small RNA generation.
Analysis has shown that parasites in Plasmodium and Cryptosporidium as well as many …
Analysis has shown that parasites in Plasmodium and Cryptosporidium as well as many …