María Belén
Pérez González
Publications dans lesquelles il/elle collabore avec María Belén Pérez González (5)
2008
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Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group
Journal of Inherited Metabolic Disease, Vol. 31, Núm. 1, pp. 55-66
2000
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Potential relationship between genotype and clinical outcome in propionic acidaemia patients
European Journal of Human Genetics, Vol. 8, Núm. 3, pp. 187-194
1999
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Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: Molecular survey by regions
European Journal of Human Genetics, Vol. 7, Núm. 3, pp. 386-392
1994
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Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families
Journal of Inherited Metabolic Disease, Vol. 17, Núm. 3, pp. 377-378
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Phenotype distribution in the Spanish phenylketonuria population and related genotypes
Journal of Inherited Metabolic Disease, Vol. 17, Núm. 3, pp. 366-368