Joshua J. Baker

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

R. Ganetzky, H. Prokisch, E. Eklund, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Pegvaliase dose escalation to 80 mg daily may lead to efficacy in patients who do not exhibit an optimal response at lower doses

B. Burton, Joshua J. Baker, E. Vucko, 2022, Molecular genetics and metabolism reports.

Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency

K. Becker, L. Hitchins, Joshua J. Baker, 2022, Molecular genetics and metabolism reports.