Aromatic L-amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.

Weiqian DaiDeyun LuXuefan GuYong-Guo Yunull null

Published in: Molecular genetics & genomic medicine (2020)

The clinical data of the cohort of 17 patients in Mainland China broaden the clinical, molecular, and treatment spectrum of aromatic L-amino acid decarboxylase deficiency.

Keyphrases

amino acid
end stage renal disease
ejection fraction
prognostic factors
peritoneal dialysis
machine learning
big data