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Your search keyword '"Hyder A. Jinnah"' showing total 7 results

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7 results on '"Hyder A. Jinnah"'

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1. Clinical severity in Lesch–Nyhan disease: The role of residual enzyme and compensatory pathways

2. Genotypic and phenotypic spectrum in attenuated variants of Lesch–Nyhan disease

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3. The effects of sapropterin on urinary monoamine metabolites in phenylketonuria

4. A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease

5. Consequences of impaired purine recycling on the proteome in a cellular model of Lesch-Nyhan disease

6. Lesch–Nyhan disease in a female with a clinically normal monozygotic twin

7. Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase