Preschool

2-Aminoadipic Acid

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials

Clara D. M. Van Karnebeek
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Amino Acid Substitution

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency

Curtis R. Coughlin
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Adolescent

Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children

Ralph J. DeBerardinis
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