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National Institutes of Health
Inborn Errors of Metabolism
Semantic Scholar uses AI to extract papers important to this topic.
A rare cause of opistotonus; fumaric aciduria: The first case presentation in Turkey.
Turk pediatri arsivi
Corpus ID: 37384487
Fumaric aciduria is a rare autosomal recessive metabolic disease which is characterized with excessive fumaric acid exretion in…
Mild fumarase deficiency and a trial of low protein diet.
Molecular genetics and metabolism
Corpus ID: 13311074
We report clinical findings in a 12-year-old girl with a mild case of fumarase deficiency who continues to make progress. She has…
Clinical and biochemical heterogeneity associated with fumarase deficiency
P. de Lonlay
Corpus ID: 20466751
Fumarase deficiency (FD), caused by biallelic alteration of the Fumarase Hydratase gene (FH), and a rare metabolic disorder that…
Fumaric aciduria: an overview and the first Brazilian case report
M. J. Fernandes
M. L. C. D. Oliveira
Journal of Inherited Metabolic Disease
Corpus ID: 5176038
Fumaric aciduria is a rare metabolic disease, with 40 cases reported so far. Fumarase deficiency leads mainly to brain…
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy.
The New England journal of medicine
Corpus ID: 9868938
We observed a deficiency of both the mitochondrial and cytosolic forms of fumarase in a male infant with mitochondrial…
Fumaric aciduria: a new organic aciduria, associated with mental retardation and speech impairment.
Clinica chimica acta; international journal of…
Corpus ID: 28434414
Two siblings are described who present with fumaric aciduria, a hitherto unreported organic aciduria. The results of our…
Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (leigh disease)
Annals of neurology
Corpus ID: 8111772
Autopsy examination confirmed the diagnosis of subacute necrotizing encephalomyelopathy (SNE) in a 7‐monthold male infant who…
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