1,720,977 research outputs found
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism
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Neonatal screening for congenital errors of metabolism by means of Tandem Mass: Italian experience
No full textLong-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.
No full textRivisitazione degli screening neonatali di massa per le malattie metaboliche alla luce delle nuove esperienze diagnostiche.
No full textX-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.
No full textIsolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient.
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