Fumarate hydratase deficiency

Journal of Inherited Metabolic Disease

Volumn 21, Issue 4, 1998, Pages 435-436

  Bonioli, E ^a   Di Stefano, A ^a   Peri, V ^a   Caruso, U ^a   Cerone, R ^a   Lamantea, E ^b   Taroni, F ^b   Bellini, C ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARATE HYDRATASE;

ARTICLE; CASE REPORT; ENZYME DEFICIENCY; HUMAN; MALE;

FUMARATE HYDRATASE; FUMARATES; HUMANS; INFANT;

EID: 0031850863     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005379330187     Document Type: Article

References (3)

1. Elpeleg O N, Amir N, Christensen E (1992) Variability of clinical presentation in fumarase hydratase deficiency. J Pediatr 121: 752-754.
2. Gellera C, Uziel G, Rimoldi M (1990) Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology 40: 495-499.
3. Narayanan V, Diven W, Ahdab-Barmada M (1996) Congenital fumarase deficiency presenting with hypotonia and areflexia. J Child Neurol 11: 252-255.