Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine

Conclusion Our positive results encourage further studies both on L-phenylalanine for other individuals with FARS2 deficiency and the exploration of this treatment rationale for other ARS2 deficiencies. Additionally, treatment costs were relatively low at 1.10 €/day. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text

Source: Neuropediatrics - February 20, 2023 Category: Neurology Authors: Oswald, Susanne L. Steinbr ücker, Katja Achleitner, Melanie T. G öschl, Elisabeth Bittner, Reginald E. Schmidt, Wolfgang M. Tiefenthaler, Elke Hammerl, Emma Eisl, Anna Mayr, Doris Mayr, Johannes A. Wortmann, Saskia B. Tags: Short Communications Source Type: research