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Found 7 publications

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

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

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

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

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

Betaine anhydrous in homocystinuria: results from the RoCH registry.

Feasibility of domino liver transplantation from hyperhomocsyteinemia.

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