Clinical and biochemical heterogeneity associated with fumarase deficiency

Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis

(2010) DL Smit et al.   CLINICAL GENETICS

Fumaric aciduria: an overview and the first Brazilian case report

(2010) Gabriella Allegri et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Fumarate Hydratase Deficiency in Renal Cancer Induces Glycolytic Addiction and Hypoxia-Inducible Transcription Factor 1  Stabilization by Glucose-Dependent Generation of Reactive Oxygen Species

(2009) S. Sudarshan et al.   MOLECULAR AND CELLULAR BIOLOGY

Angiogenesis in systemic sclerosis: Impaired expression of vascular endothelial growth factor receptor 1 in endothelial progenitor-derived cells under hypoxic conditions

(2008) J. Avouac et al.   ARTHRITIS AND RHEUMATISM

Differential metabolic consequences of fumarate hydratase and respiratory chain defects

(2008) Nuno Raimundo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency

(2008) Jean-Pierre Bayley et al.   BMC Medical Genetics