Methylmalonic Acid Levels in Serum, Exosomes, and Urine and Its Association With cblC Type Methylmalonic Acidemia-Induced Cognitive Impairment [PDF]
Frontiers in Neurology, 2022 BackgroundThe cblC type methylmalonic acidemia is the most common methylmalonic acidemia (MMA) in China. The biochemical characteristics of this disease include elevated methylmalonic acid and homocysteine (HCY), increased propionylcarnitine (C3 ...
Wenqi Song
exaly +4 more sources
Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin‐Treated Patients With Early‐Onset Cobalamin C Disease [PDF]
JIMD ReportsCobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS).
Arthavan Selvanathan +7 more
doaj +3 more sources
Case Report: Dilated Cardiomyopathy as the Initial Presentation in an Adult With Late-Onset CblC Defect [PDF]
Frontiers in Cardiovascular MedicineCombined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, represents the most common inborn error of cobalamin metabolism, caused by pathogenic variants in the MMACHC gene.
Lin Hao
exaly +4 more sources
Translational OncologyCBLC (CBL proto-oncogene C) is an E3 ubiquitin protein ligase that plays a key role in cancers. However, the function and mechanism of CBLC in colorectal cancer (CRC) has not been fully elucidated. The aim of this study was to investigate the function of
Wenjun Pan, Guanyu Yan, Xingwu Liu
exaly +4 more sources
Long-term outcome of CblC deficiency complicated with pulmonary hypertension [PDF]
Orphanet Journal of Rare DiseasesObjective 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 +9 more
doaj +4 more sources
Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment [PDF]
International Journal of Neonatal ScreeningCblC deficiency is the most common intracellular disorder of vitamin B12 metabolism. Expanded newborn screening (NBS) plays a key role in early diagnosis, allowing timely treatment and preventing serious complications.
Francesca Nardecchia +8 more
doaj +2 more sources
Late-onset cobalamin C defect with a rare MMACHC c.457 C > T variant: a case report and literature review [PDF]
BMC PediatricsBackground Cobalamin C (cblC) defect, also referred to as combined methylmalonic acidemia and homocystinuria, is the most common inborn error of intracellular cobalamin metabolism.
Qingmei Huang +4 more
doaj +2 more sources
Neonatal-onset cblC-type methylmalonic acidemia combined with homocysteinemia: case report [PDF]
Frontiers in PediatricsObjectiveTo investigate the clinical diagnostic features, screening and definitive diagnostic methods of neonatal-onset cblC type methylmalonic acidemia (MMA) combined with homocysteinemia, so as to provide a reference for early clinical identification ...
Guoqiang Zhang, Liming Zhang, Hong Liu
doaj +2 more sources
Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant [PDF]
Clinical EpigeneticsMutations in the MMACHC gene lead to autosomal recessive combined methylmalonic aciduria and homocystinuria (cblC type). Additionally, specific mutations in the downstream, inversely oriented PRDX1 gene that result in aberrant PRDX1 transcripts ...
Martina Škopková +7 more
doaj +2 more sources
Methylation of the epigenetic JMJD2D protein by SET7/9 promotes prostate tumorigenesis
Frontiers in Oncology, 2023 How the function of the JMJD2D epigenetic regulator is regulated or whether it plays a role in prostate cancer has remained elusive. We found that JMJD2D was overexpressed in prostate tumors, stimulated prostate cancer cell growth and became methylated ...
Ruicai Gu +9 more
doaj +1 more source