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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies
