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Results: 1-2 |
Results: 2
HYPERPHENYLALANINEMIA WITH HIGH-LEVELS OF 7-BIOPTERIN IS ASSOCIATED WITH MUTATIONS IN THE PCBD GENE ENCODING THE BIFUNCTIONAL PROTEIN PTERIN-4A-CARBINOLAMINE DEHYDRATASE AND TRANSCRIPTIONAL COACTIVATOR (DCOH)
Authors: THONY B NEUHEISER F KIERAT L BLASKOVICS M ARN PH FERREIRA P REBRIN I AYLING J BLAU N
Citation: B. Thony et al., HYPERPHENYLALANINEMIA WITH HIGH-LEVELS OF 7-BIOPTERIN IS ASSOCIATED WITH MUTATIONS IN THE PCBD GENE ENCODING THE BIFUNCTIONAL PROTEIN PTERIN-4A-CARBINOLAMINE DEHYDRATASE AND TRANSCRIPTIONAL COACTIVATOR (DCOH), American journal of human genetics, 62(6), 1998, pp. 1302-1311
DIAGNOSTIC SCREENING FOR MUCOPOLYSACCHARIDOSES TYPES I-VII BY FLUOROPHORE-LABELED CARBOHYDRATE PAGE
Authors: GIUDICI TA SUNICO H BLASKOVICS M
Citation: Ta. Giudici et al., DIAGNOSTIC SCREENING FOR MUCOPOLYSACCHARIDOSES TYPES I-VII BY FLUOROPHORE-LABELED CARBOHYDRATE PAGE, Journal of inherited metabolic disease, 19(2), 1996, pp. 263-266
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