Elena Martín-Hernández

Learn More
Mitochondrial DNA depletion syndrome (MDS) is a group of disorders characterized by a quantitative reduction of the mitochondrial DNA copy number and inherited as autosomal recessive traits. Patients(More)
We report the clinical and biochemical findings from two unrelated patients who presented with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.(More)
BACKGROUND AND OBJECTIVE To evaluate clinical, biochemical and genetic findings of two series of patients with biotinidase deficiency. PATIENTS AND METHOD Fifteen cases detected through newborn(More)