Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome (original) (raw)
Relationship Among Genotype, Biochemical Phenotype, and Cognitive Performance in Females With Phenylalanine Hydroxylase Deficiency: Report From the Maternal Phenylketonuria Collaborative Study
Felix Aquino De La Cruz
Pediatrics, 1999
View PDFchevron_right
Maternal Phenylketonuria Collaborative Study (MPKUCS)—The 'outliers
Colleen Azen
Journal of Inherited Metabolic Disease, 2000
View PDFchevron_right
Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia
Colin Graham
Archives of Disease in Childhood, 2000
View PDFchevron_right
Relationships between phenylalanine levels, intelligence and socioeconomic status of patients with phenylketonuria
juliana borges
Jornal de Pediatria, 2012
View PDFchevron_right
The role of intelligence in phenylketonuria: A review of research and management☆
Mitzie Grant
Molecular Genetics and Metabolism, 2010
View PDFchevron_right
Maternal non-phenylketonuric mild hyperphenylalaninemia
Felix Aquino De La Cruz
European Journal of Pediatrics, 1996
View PDFchevron_right
Variability in Phenylalanine Control Predicts IQ and Executive Abilities in Children with Phenylketonuria NIH Public Access Author Manuscript
Elena Karabeleski
View PDFchevron_right
The international collaborative study of maternal phenylketonuria: status report 1994
Felix Aquino De La Cruz
Acta Paediatrica, 1994
View PDFchevron_right
Outcome at Age 4 Years in Offspring of Women With Maternal Phenylketonuria
Colleen Azen
JAMA, 2000
View PDFchevron_right
The North American Maternal Phenylketonuria Collaborative Study, developmental assessment of the offspring: preliminary report
Colleen Azen
European Journal of Pediatrics, 1996
View PDFchevron_right
Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ
Stephan Huijbregts
Pediatric Research, 2021
View PDFchevron_right
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population
Maryam Abiri
Journal of Inherited Metabolic Disease
View PDFchevron_right
Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects
Jeffrey Bidwell
Journal of Medical Genetics, 1995
View PDFchevron_right
Maternal Phenylketonuria: An International Study
Reuben Matalon
Molecular Genetics and Metabolism, 2000
View PDFchevron_right
Phenylketonuria in Children and Mothers
Keith Widaman
Current Directions in Psychological Science, 2009
View PDFchevron_right
Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria
Pras O Phe
European Journal of Pediatrics, 1996
View PDFchevron_right
Molecular analyses of Phenylketonuria in the intellectually disabled children from Faisalabad, Punjab, Pakistan
Fazli Rabbi Awan
Pakistan Journal of Neurological Sciences, 2022
View PDFchevron_right
Elevation of plasma phenylalanine levels during pregnancies of women heterozygous for phenylketonuria1
Edward Kang
Journal of Pediatrics, 1963
View PDFchevron_right
Phenylketonuria from genetics to clinics: An Iranian prospect
Zahra Fazeli
2011
View PDFchevron_right
Intellectual and Developmental Status in Children With Hyperphenylalaninemia and PKU Who Were Screened in a National Program
Ali rabbani
Iranian Journal of Pediatrics, 2015
View PDFchevron_right
A preliminary report of the collaborative study of maternal phenylketonuria in the United States and Canada
Colleen Azen
Journal of Inherited Metabolic Disease, 1990
View PDFchevron_right
Prevalence of classical phenylketonuria in mentally retarded individuals in Iran
Noor Ghiasvand
View PDFchevron_right
Phenylalanine blood levels and clinical outcomes in phenylketonuria: A systematic literature review and meta-analysis
Kay Noel
Molecular Genetics and Metabolism, 2007
View PDFchevron_right
Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene
Maria Gizewska
Journal of Intellectual Disability Research, 2003
View PDFchevron_right
The international collaborative study of maternal phenylketonuria: status report 1998
Lawrence Platt, Reuben Matalon
European Journal of Pediatrics, 2000
View PDFchevron_right
Neonatal neurological assessment of offspring in maternal phenylketonuria
Pi-nian Chang
Journal of inherited metabolic disease, 1998
View PDFchevron_right