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

Topic mentions per year

Topic mentions per year

1967-2017
012319672017

Papers overview

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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… (More)
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2013
2013
Isolated methylmalonic acidemia (MMA), caused by deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT), is often… (More)
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2012
2012
Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA… (More)
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2009
2009
Hyperhomocysteinemia is associated with various pathologies including cardiovascular disease, stroke, and cognitive dysfunctions… (More)
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2006
2006
Homocystinuria is due to enzymatic deficiencies resulting in elevated blood levels of homocysteine (Hcy), homocystine (Hci), and… (More)
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2004
2004
Purpose: For treatment of cystathionine β-synthase (CβS) deficiency, we determined the effect of betaine (N, N, N… (More)
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2002
2002
Homocystinuria is an inborn error of sulfur amino acid metabolism characterized predominantly by vascular and nervous system… (More)
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1981
1981
Early atherosclerotic-like lesions and thromboemobolic problems are prominent in homocystinuric patients. Recent evidence… (More)
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Highly Cited
1967
Highly Cited
1967
Although metabolic acidosis from a variety of causes is very frequent in infancy, congenital acidosis appears to be extremely… (More)
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