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Evidence that Oxidative Disbalance and Mitochondrial Dysfunction are Involved in the Pathophysiology of Fatty Acid Oxidation Disorders

scientific article published on 02 September 2020

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases

scientific article published on 10 June 2019

Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency

artículo científico publicado en 2011

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