Daisy E Castiñeiras

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RATIONALE Rapid and specific screening methods to detect abnormal metabolites in biological fluids are important for the diagnosis of many Inborn Errors of Metabolism (IEM). In Galicia (N.W. Spain),(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)