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lourdes-r-desviat documents
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Phenylketonuria in Spanish Gypsies: Prevalence of the IVS10nt546 mutation on haplotype 34
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Phenylketonuria in Spain: RFLP haplotypes and linked mutations
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Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype
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High frequency of large genomic deletions in the PCCA gene causing propionic acidemia