Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and …
S Hu, S Mei, N Liu, X Kong - BMC medical genetics, 2018 - Springer
Background We sought to analyse MMACHC variants among 126 pedigrees with cobalamin
(cbl) C deficiency and combined methylmalonic aciduria and homocystinuria by Sanger …
(cbl) C deficiency and combined methylmalonic aciduria and homocystinuria by Sanger …
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC
Y Zong, N Liu, Z Zhao, X Kong - BMC medical genetics, 2015 - Springer
Background Combined methylmalonic aciduria and homocystinuria, cobalamin (cbl) C
deficiency, is a rare disorder of intracellular vitamin B 12 (cbl) metabolism caused by …
deficiency, is a rare disorder of intracellular vitamin B 12 (cbl) metabolism caused by …
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type
C Nogueira, C Aiello, R Cerone, E Martins… - Molecular genetics and …, 2008 - Elsevier
Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most
frequent inborn error of vitamin B12. The recent identification of the disease gene …
frequent inborn error of vitamin B12. The recent identification of the disease gene …
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype–genotype correlations and ethnic-specific observations
CF Morel, JP Lerner-Ellis, DS Rosenblatt - Molecular genetics and …, 2006 - Elsevier
Methylmalonic aciduria and homocystinuria, cblC type (MIM 277400), is the most frequent
inborn error of vitamin B12 (cobalamin, Cbl) metabolism, caused by an inability of the cell to …
inborn error of vitamin B12 (cobalamin, Cbl) metabolism, caused by an inability of the cell to …
[HTML][HTML] Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c. 609G> A and C. 567dupT mutations in the MMACHC gene
JT Chang, YY Chen, TT Liu, MY Liu, PC Chiu - Pediatrics & Neonatology, 2011 - Elsevier
Combined methylmalonic aciduria and homocystinuria, cobalamin (cbl) C type (cblC
disease), the most common inborn error of vitamin B12, is a rare disorder of intracellular cbl …
disease), the most common inborn error of vitamin B12, is a rare disorder of intracellular cbl …
Epimutation of MMACHC compound to a genetic mutation in cblC cases
X Zhang, Q Chen, Y Song, P Guo… - … Genetics & Genomic …, 2021 - Wiley Online Library
Background Methylmalonic aciduria (MMA) combined with homocystinuria, cobalamin (cbl)
C deficiency type (OMIM 277400), is the most common autosomal recessive inherited …
C deficiency type (OMIM 277400), is the most common autosomal recessive inherited …
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria
MY Liu, YL Yang, YC Chang, SH Chiang… - Journal of human …, 2010 - nature.com
The cblC type of combined methylmalonic aciduria (MMA) and homocystinuria (HC) is the
most common inborn error of vitamin B 12 metabolism and is caused by mutations in the …
most common inborn error of vitamin B 12 metabolism and is caused by mutations in the …
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 …
Outcomes of patients with cobalamin C deficiency: a single center experience
DK Bourque, LE Mellin‐Sanchez, G Bullivant… - JIMD …, 2021 - Wiley Online Library
Biallelic variants in MMACHC results in the combined methylmalonic aciduria and
homocystinuria, called cobalamin (cbl) C (cblC) deficiency. We report 26 patients with cblC …
homocystinuria, called cobalamin (cbl) C (cblC) deficiency. We report 26 patients with cblC …
A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China
X Wang, W Sun, Y Yang, J Jia, C Li - Journal of the neurological sciences, 2012 - Elsevier
BACKGROUND: Combined methylmalonic aciduria and homocystinuria, cblC type (cblC
disease), is the most common inborn disorder of cobalamin metabolism. This disorder is …
disease), is the most common inborn disorder of cobalamin metabolism. This disorder is …