Results 41 to 50 of about 1,993 (190)
Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report
BMC Pediatrics, 2020 Background Methylmalonic Aciduria and Homocystinemia, cobalamin C (cblC) is an inherited disease of vitamin B12 metabolism with a wide spectrum of clinical manifestations.
Ling-yi Wen, Ying-kun Guo, Xiao-qing Shi
doaj +1 more source
Mouse Models To Study the Pathophysiology of Combined Methylmalonic Acidemia and Homocystinuria, cblC Type [PDF]
, 2020 Combined methylmalonic acidemia and homocystinuria, cblC type, is the most common inherited disorder of cobalamin metabolism and is characterized by severe fetal developmental defects primarily impacting the central nervous system, hematopoietic system ...
Wong, Leeyean +11 more
core +1 more source
Clinical presentation and outcome in a series of 88 patients with the cblC defect [PDF]
Journal of Inherited Metabolic Disease, 2014 AbstractThe cblC defect is the most common inborn error of vitamin B12 metabolism. Despite therapeutic measures, the long‐term outcome is often unsatisfactory. This retrospective multicentre study evaluates clinical, biochemical and genetic findings in 88 cblC patients.
Fischer, Sabine +27 more
openaire +5 more sources
Investigation on MMACHC-R161Q pathological mutant from cblC disease [PDF]
The cblC disease is a rare inborn disorder of the vitamin B12 (cobalamin, Cbl) metabolism characterized by combined methylmalonic aciduria and homocystinuria.
Marco Tutone +12 more
core +2 more sources
Methionine Synthase Interacts With the Methionine Adenosyl-Transferase MATα2 and the DNA Methyltransferase DNMT3b in the Nucleus. [PDF]
J Inherit Metab DisThis study shows that methionine synthase (MS) interacts with MATα2, responsible for SAM production, and the methyltransferase DNMT3b in the nucleus. These results support the idea that spatial compartmentalization of one‐carbon metabolism could play a major role in regulating the epigenome.
Jeandel M +8 more
europepmc +2 more sources
, 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 ...
Shuqi Sun (2830394) +4 more
core +1 more source
, 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 ...
Shuqi Sun (2830394) +4 more
core +1 more source
Easily Misdiagnosed cblC Deficiency in Adolescents: the Clinical and Metabolic Studies [PDF]
, 2022 Abstract Purpose: Adolescents are easily attacked by potential inherited metabolic disorders. cblC deficiency is the most common type of methylmalonic aciduria in China. The late-onset patients present with varied non-specific symptoms and usually being misdiagnosed.
Zhehui Chen +17 more
openaire +1 more source
Frontiers in Neurology, 2023 BackgroundLate-onset cobalamin C (cblC) deficiency is associated with a wide range of neurological and psychiatric symptoms, hematological manifestations, anorexia, renal failure, ocular abnormalities, dermatitis, and pancreatitis.
Miao Sun, Yingjie Dai
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Combined methylmalonic acidemia and homocystinuria, cobalamin C type (cblC defect) is the most common inborn error of cobalamin metabolism, and different approaches have been applied to its prenatal diagnosis.
Ting Chen +11 more
doaj +1 more source