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Fumarase deficiency

Known as: FMRD, Fumarate Hydratase Deficiency 
National Institutes of Health

Related topics

Related topics

21 relations
Agenesis of corpus callosumAutosomal recessive inheritanceByzanthine arch palateCerebral atrophy

Papers overview

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Highly Cited
2013
Highly Cited
2013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
Background Agenesis of corpus callosum has been associated with several defects of the mitochondrial respiratory chain and the… 
2011
2011
Clinical and biochemical heterogeneity associated with fumarase deficiency
Fumarase deficiency (FD), caused by biallelic alteration of the Fumarase Hydratase gene (FH), and a rare metabolic disorder that… 
2009
2009
Downregulation of SRF–FOS–JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas
Defects of metabolic enzymes result in a variety of manifestations not logically explained by the primary metabolic function… 
Highly Cited
2001
Highly Cited
2001
Flux-balance analysis of mitochondrial energy metabolism: consequences of systemic stoichiometric constraints.
Mitochondrial metabolism is a critical component in the functioning and maintenance of cellular organs. The stoichiometry of… 
Highly Cited
1998
Highly Cited
1998
Molecular analysis and prenatal diagnosis of human fumarase deficiency.
Fumarase deficiency is a rare autosomal recessive disorder of the citric acid cycle causing severe neurological impairment. The… 
Highly Cited
1994
Highly Cited
1994
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
We report an inborn error of the tricarboxylic acid cycle, fumarase deficiency, in two siblings born to first cousin parents… 
Review
1992
Review
1992
Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.
A family having two boys with progressive encephalomyopathy and fumaric aciduria due to fumarase deficiency is described. Both… 
1992
1992
Effect of calcium alginate dressings on partial-thickness wounds in swine.
The epithelization of partial-thickness wounds (PTW) has been shown to be enhanced with the use of moisture-retentive dressings… 
1989
1989
A fourth case of fumarase deficiency
Fumarate hydratase (fumarase, EC 4.2.1.2) has a key role in cellular energy production: in the mitochondria it is a component of… 
Highly Cited
1986
Highly Cited
1986
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.
We observed a deficiency of both the mitochondrial and cytosolic forms of fumarase in a male infant with mitochondrial… 
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