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Fumaric aciduria

Known as: Fumaricaciduria 
National Institutes of Health

Papers overview

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2014
2014
Fumaric aciduria is a rare autosomal recessive metabolic disease which is characterized with excessive fumaric acid exretion in… 
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2012
2012
We report clinical findings in a 12-year-old girl with a mild case of fumarase deficiency who continues to make progress. She has… 
2011
2011
Fumarase deficiency (FD), caused by biallelic alteration of the Fumarase Hydratase gene (FH), and a rare metabolic disorder that… 
Review
2010
Review
2010
Fumaric aciduria is a rare metabolic disease, with 40 cases reported so far. Fumarase deficiency leads mainly to brain… 
Highly Cited
1986
Highly Cited
1986
We observed a deficiency of both the mitochondrial and cytosolic forms of fumarase in a male infant with mitochondrial… 
1983
1983
Two siblings are described who present with fumaric aciduria, a hitherto unreported organic aciduria. The results of our… 
Highly Cited
1979
Highly Cited
1979
Autopsy examination confirmed the diagnosis of subacute necrotizing encephalomyelopathy (SNE) in a 7‐monthold male infant who…