Mutation analysis in hyperphenylalaninemia patients from South Italy

Clinical Biochemistry

Volumn 46, Issue 18, 2013, Pages 1896-1898

  Trunzo, Roberta ^a   Santacroce, Rosa ^a   D'Andrea, Giovanna ^a   Longo, Vittoria ^a   De Girolamo, Giuseppe ^a   Dimatteo, Claudia ^a   Leccese, Angelica ^a   Lillo, Vincenza ^b   Papadia, Francesco ^b   Margaglione, Maurizio ^a  

^a UNIVERSITY OF FOGGIA   (Italy)

^b Ospedale Pediatrico Giovanni XXIII   (Italy)

Author keywords

Gene phenylalanine hydroxylase (PAH); Hyperphenylalaninemia; Mutation analysis

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

ALLELE; ARTICLE; CLINICAL ARTICLE; DIET THERAPY; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; HYPERPHENYLALANINEMIA; ITALY; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS;

GENE PHENYLALANINE HYDROXYLASE (PAH); HYPERPHENYLALANINEMIA; MUTATION ANALYSIS;

DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; INFANT, NEWBORN; ITALY; MUTATION; NEONATAL SCREENING; PHENOTYPE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS;

EID: 84889651308     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2013.06.009     Document Type: Article

References (4)

1. Daniele A., Cardillo G., Pennino C., Carbone M.T., Scognamiglio D., Correra A., et al. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations. Ann Hum Genet 2007, 71(Pt 2):185-193.
2. Avigad S., Cohen B.E., Bauer S., Schwartz G., Frydman M., Woo S.L., et al. A single origin of phenylketonuria in Yemenite Jews. Nature 1990, 8(344):168-170.
3. Guldberg P., Rey F., Zschocke J., Romano V., François B., Michiels L., et al. A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 1998, 63:71-79.
4. Bercovich D., Elimelech A., Zlotogora J., Korem S., Yardeni T., Gal N., et al. Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. J Hum Genet 2008, 53:407-418.