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Titolo:
PHENYLALANINE-HYDROXYLASE GENOTYPES, PREDICTED RESIDUAL ENZYME-ACTIVITY AND PHENOTYPIC PARAMETERS OF DIAGNOSIS AND TREATMENT OF PHENYLKETONURIA
Autore:
BURGARD P; RUPP A; KONECKI DS; TREFZ FK; SCHMIDT H; LICHTERKONECKI U;
Indirizzi:
UNIV HEIDELBERG,DEPT GEN PEDIAT,GERMAN COLLABORAT STUDY PHENYLKETONURIA,NEUENHEIMER FELD 150 D-69120 HEIDELBERG GERMANY MARSHFIELD MED RES FDN,CTR GENET MED MARSHFIELD WI 54449
Titolo Testata:
European journal of pediatrics
, volume: 155, anno: 1996, supplemento:, 1
pagine: 11 - 15
SICI:
0340-6199(1996)155:<11:PGPRE>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
SOUTHERN EUROPE; MOLECULAR-BASIS; GENE;
Keywords:
PHENYLKETONURIA; GENOTYPE; TREATMENT; IQ;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
15
Recensione:
Indirizzi per estratti:
Citazione:
P. Burgard et al., "PHENYLALANINE-HYDROXYLASE GENOTYPES, PREDICTED RESIDUAL ENZYME-ACTIVITY AND PHENOTYPIC PARAMETERS OF DIAGNOSIS AND TREATMENT OF PHENYLKETONURIA", European journal of pediatrics, 155, 1996, pp. 11-15

Abstract

The interdependence of the predicted in vitro residual enzyme activity (PRA), as deduced from the complete genotypes of 64 hyperphenylalaninaemic patients, and parameters for diagnosis of hyperphenylalaninaemic disorders, the fluctuation of the phyenlylalanine (Phe) values during treatment, longterm dietary control during treatment, and a parameter for the outcome of therapy (IQ) was investigated by correlation analysis. A highly significant correlation was found between the PRA and diagnostic parameters, as well as the fluctuation of the Phe values during treatment. Significant correlations were also observed between theparameter describing the fluctuation of the Phe values and the IQ, aswell as between the quality of dietary control and IQ. The PRA is a valuable tool for the differential diagnosis of hy perphenylalaninaemicdisorders and for the prediction of one aspect of the course of the disease which is related to the intellectual outcome of therapy. The quality of dietary control was independent of the genotype, indicating that the outcome of therapy can be successfully manipulated in spite ofthe genetic make-up.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/06/20 alle ore 02:34:35