Fumarate hydratase deficiency

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

Cinzia Gellera, Graziella Uziel, M. Rimoldi et al. · Neurology · 1990 · 96 citations

Variability of clinical presentation in fumarate hydratase deficiency

Orly Elpeleg, Naomi Amir, Ernst Christensen · The Journal of Pediatrics · 1992 · 28 citations

Metabolic Disorder, Fumarate Hydratase Deficiency, Clinical Chemistry +3

Congenital Fumarase Deficiency Presenting With Hypotonia and Areflexia

Vinodh Narayanan, Warren F. Diven, Mamdouha Ahdab-Barmada · Journal of Child Neurology · 1996 · 11 citations

Developmental Anomaly, Pediatrics, Congenital Disorders +4