Associated Papers
Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders.
Kaler SG et al.
Molecular Genetics and Metabolism, 2026
Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.
Couce ML et al.
Gene, 2013
Molecular epidemiology and genotype-phenotype correlation in phenylketonuria patients from South Spain.
Bueno MA et al.
Journal of Human Genetics, 2013
Mutation analysis of phenylketonuria patients from Morocco: high prevalence of mutation G352fsdelG and detection of a novel mutation p.K85X.
Dahri S et al.
Clinical Biochemistry, 2010
Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
Daniele A et al.
Annals of Human Genetics, 2007
Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene.
Shawky RM et al.
Eastern Mediterranean Health Journal = La Revue De Sante De La Mediterranee Orientale = Al-majallah Al-sihhiyah Li-sharq Al-mutawassit, 2002
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
Desviat LR et al.
European Journal of Human Genetics : Ejhg, 1999
Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
Carter KC et al.
European Journal of Human Genetics : Ejhg, 1998
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt.
Hashem N et al.
Human Genetics, 1996
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
Guldberg P et al.
Human Mutation, 1996
Novel frame shift deletions of the phenylalanine hydroxylase gene in phenylketonuria.
Bénit P et al.
Human Molecular Genetics, 1994
Haplotypes and mutations of the PAH locus in Egyptian families with PKU.
Effat L et al.
European Journal of Human Genetics : Ejhg, 0
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