Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Methylmalonic acidemia with homocystinuria

Known as: Methylmalonic Acidemia and Homocystinuria, CblC Type, Cobalamin-C methylmalonic acidemia and homocystinuria, Methylmalonic acidemia and homocystinuria cblC type 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
An 18-year-old man presented in January, 2015, with 48 h of worsening dyspnoea and 1 month of lower limb oedema. He had had… Expand
Is this relevant?
2015
2015
An understanding of health related quality of life (HRQoL) in children and families affected by methylmalonic acidemia (MMA) is… Expand
  • table 1
  • table 2
  • figure 1
  • table 3
Is this relevant?
2014
2014
Objective: Repetitive umbilical cord occlusions (UCOs) in ovine fetus leading to severe acidemia result in adaptive shut-down of… Expand
  • figure 1
  • table 1
  • table 2
  • figure 2
  • figure 4
Is this relevant?
2013
2013
Oxidative stress has been described as a putative disease mechanism in pathologies associated with an elevation of homocysteine… Expand
  • figure 1
  • table I
  • figure 2
  • table II
  • figure 3
Is this relevant?
2011
2011
Combined methylmalonic aciduria and homocystinuria, cobalamin (cbl)C type (cblC disease), the most common inborn error of vitamin… Expand
  • figure 1
Is this relevant?
2010
2010
An increased reactive oxygen species (ROS) production and apoptosis rate have been associated with several disorders involved in… Expand
Is this relevant?
2004
2004
Purpose: For treatment of cystathionine β-synthase (CβS) deficiency, we determined the effect of betaine (N, N, N… Expand
  • figure 1
  • table 1
  • table 2
Is this relevant?
2000
2000
Methylmalonic aciduria (McKusick 251000) comprises a group of inherited metabolic disorders caused by deficient L-methylmalonyl… Expand
  • table 1
Is this relevant?
1981
1981
Early atherosclerotic-like lesions and thromboemobolic problems are prominent in homocystinuric patients. Recent evidence… Expand
Is this relevant?
1975
1975
The preventive effect of carboxylic acids on freezing denaturation at -30°C for 4 to 7 weeks was examined by using an in vitro… Expand
  • figure 1
  • table 1
Is this relevant?