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    Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

    A biochemical variant of argininosuccinate lyase deficiency, found in five individuals, is introduced. In comparison to classical patients, the variant cases of argininosuccinate lyase deficiency were characte...

    W. J. Kleijer, V. H. Garritsen, M. Linnebank… in Journal of Inherited Metabolic Disease (2002)