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  1. Article

    Pyruvate Carboxylase Deficiency: A Benign Variant with Normal Development

    ABSTRACT: The devastating nature of a pyruvate carboxylase deficiency is underscored by the uniformly fatal outcome of the neonatal (French) type and the severely disabling and ultimately fatal outcome of the ...

    R N Van Coster, P M Fernhoff, D C De Vivo in Pediatric Research (1991)

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    Zinc status and growth of children undergoing treatment for phenylketonuria

    Children with phenylketonuria (PKU) are treated with semi-synthetic diets restricted in phenylalanine. Low-phenylalanine or phenylalanine-free formulae provide the majority of protein and energy in the diet wh...

    Dr. P. B. Acosta, P. M. Fernhoff, H. S. Warshaw… in Journal of Inherited Metabolic Disease (1982)