Summary: Determination of Cytokines and Oxidative Stress Biomarkers in Cognitive Impairment Induced by Methylmalonic Acidemia.

Summary: Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

Summary: Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.

Summary: Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction.

Summary: Cases of inborn errors of metabolism diagnosed in children with autism.

Summary: The study aimed to identify safety of betaine anhydrous (Cystadane®) in the treatment of patients with inborn errors of homocysteine metabolism (homocystinuria) in order to minimize the treatment associated risks.

Summary: The study researched the outcomes of a liver transplant in patients with hyperhomocsyteinemia.