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Metabolic studies of a patient harbouring a novel S487L mut..:

Arita, Juliana Harumi ; Barros, Mário H. ; Ravagnani, Felipe Gustavo...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1864 (2018)  5 - p. 1896-1903 , 2018