Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

6533b7ddfe1ef96bd127545a

RESEARCH PRODUCT

Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

Donatella Greco M. Cammarata Valentino Romano Maria Piccione Marcello Ciaccio Francesco Calì Giovanni Corsello Paolo Bosco

subject

Phenylketonuria Maternal Phenylalanine hydroxylase phenylalanine 4 monooxygenase Phenylalanine Gene mutation Maternal blood Neonatal Screening Pregnancy Phenylketonurias Medicine Humans Maternal phenylketonuria Genetic Testing Phenylalanine level Genetics biology business.industry Infant Newborn Phenylalanine Hydroxylase Pedigree Italy Pediatrics Perinatology and Child Health Mutation biology.protein Identification (biology)Female business

description

not available

year	journal	country	edition	language
1999-02-09	European journal of pediatrics

10.1007/s004310051018 https://pubmed.ncbi.nlm.nih.gov/9950317

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