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    Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients

    Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive inborn error of metabolism, affecting catecholamines and serotonin biosynthesis. Cardinal signs consist in psychomotor delay, hypoto...

    M. A. Spitz, M. A. Nguyen, S. Roche, B. Heron, M. Milh in JIMD Reports, Volume 31 (2017)