PAH deficiency in Italy: Correlation of genotype with phenotype in the Sicilian population

Journal of Inherited Metabolic Disease

Volumn 19, Issue 1, 1996, Pages 15-24

  Romano, V ^a   Guldberg, P ^b   Guttler R ^b   Meli, C ^c   Mollica, F ^c   Pavone, L ^c   Giovannini, M ^d   Riva, E ^d   Biasucci, G ^d   Luotti, D ^d   Palillo, L ^e   Cali F ^a   Ceratto, N ^a   Anello, G ^a   Bosco, P ^a  

^a OASI RESEARCH INSTITUTE IRCCS   (Italy)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c UNIVERSITY OF CATANIA   (Italy)

^d SAN PAOLO HOSPITAL   (Italy)

^e Ospedale dei Bambini di Palermo   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ARTICLE; CHILD; CLINICAL ARTICLE; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HUMAN; INCIDENCE; INFANT; ITALY; MENTAL DEFICIENCY; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PHENYLKETONURIA; PRESCHOOL CHILD;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; MENTAL RETARDATION; NEONATAL SCREENING; PHENOTYPE; PHENYLALANINE; PHENYLALANINE HYDROXYLASE; PSYCHOMETRICS; SICILY;

EID: 0029916892     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799343     Document Type: Article

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