Fumarate Hydratase Deficiency in Monozygotic Twins
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health
Reference11 articles.
1. Fumaric aciduria;Kerrigan;Ann Neurol,2000
2. Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes;Gellera;Neurology,1990
3. Abnormalities in succinylpurines in fumarase deficiency;Zeman;J Inherit Metab Dis,2000
4. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America;Toro;Am J Hum Genet,2003
5. Fumarase deficiency;Zinn;N Engl J Med,1986
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1. Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature;Journal of Child Neurology;2020-10-14
2. Metabolic Drivers in Hereditary Cancer Syndromes;Annual Review of Cancer Biology;2020-03-09
3. MitoCore: a curated constraint-based model for simulating human central metabolism;BMC Systems Biology;2017-11-25
4. Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report;BMC Medical Genetics;2017-07-26
5. Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet;JIMD Reports;2017
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