• 50 Years Ago in The Journal of Pediatrics: Maternal Phenylketonuria: Implications for Growth and Development
• A capillary electrophoresis-based variant hotspot genotyping method for rapid and reliable analysis of the phenylalanine hydroxylase gene in the Chinese Han population
• A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition
• A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
• A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up
• A phenylalanine-free recombinant nutritional protein for the dietary management of phenylketonuria
• A Retrospective Chart Review and Infant Feeding Survey in the Irish Phenylketonuria (PKU) Population (2016-2020)
• AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria
• Allelic dropout in <em>PAH</em> affecting the results of genetic diagnosis in phenylketonuria
• Amplicon sequencing-based carrier screening for 170 monogenic disorders among children with abnormal LC-MS/MS results
• An unusual case of trisomy 8 mosaicism complicated by coexistence of phenylketonuria
• Analysis of gene mutations and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening
• Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening
• Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria
• Analysis of pathogenicity and genotype-phenotype correlation of the c.158G&gt;A variant of phenylalanine hydroxylase gene
• Analysis of screening results for genetic metabolic diseases among 352 449 newborns from Changsha
• Assessment of parents´ knowledge regarding phenylketonuria and its affecting factors: a cross-sectional study
• Behavioral and Emotional Problems in Early-Treated Brazilian Children and Adolescents with Phenylketonuria
• Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria
• Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China
• Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013-2019
• Breastfeeding in Phenylketonuria: Changing Modalities, Changing Perspectives
• Characteristics and outcomes of pregnancies among women with phenylketonuria from the NBS Connect registry
• Characterization of phenylalanine hydroxylase gene variants and analysis of genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China
• China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases
• Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm
• Comparison of phenylalanine tolerance in singleton and twin pregnancies in patients with phenylketonuria
• Correction to: DNAJC12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant
• Development of national consensus statements on food labelling interpretation and protein allocation in a low phenylalanine diet for PKU
• Dietetic Management of Adults with Phenylketonuria (PKU) in the UK: A Care Consensus Document
• DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant
• Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria
• Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries
• Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.
• Evaluation of droplet digital PCR for non-invasive prenatal diagnosis of phenylketonuria
• Evaluation of newborn hearing screening results of infants with phenylketonuria
• Exploring the Mystery of the Tetrahydrobiopterin Synthetic Defect Lethal Mutant <em>lem^l</em> from Birth to Death in the Silkworm <em>Bombyx mori</em>
• Follow-up of two newborns with c.158G&gt;A (p.Arg53His) mutation in gene and assessment of the site function
• Genetic analysis of eighteen patients from Gansu Province with Tetrahydrobiopterin deficiency
• Genetic etiology and clinical challenges of phenylketonuria
• Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children
• Guide for diagnosis and treatment of hyperphenylalaninemia
• Health-related quality of life of parents of children with phenylketonuria in Tehran Province, Islamic Republic of Iran
• High-throughput polymer tip-electrospray ionization mass spectrometry for enhanced detection of neopterin and biopterin in clinical urine samples
• Horseshoe kidney: Chance or embryopathy due to maternal phenylketonuria
• Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy
• Identification and molecular analysis of 11 cases of the <em>PTS</em> gene variants associated with tetrahydrobiopterin deficiency
• Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing
• Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria
• Identification of two novel DNAJC12 gene variants in a patient with mild hyperphenylalaninemia
• Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
• Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China
• Insurance Reimbursement for Special Foods and Phenylalanine Levels in Patients With PKU in China
• Italian national consensus statement on management and pharmacological treatment of phenylketonuria
• Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria
• Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802
• Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802
• Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management
• Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background
• Mealtime Anxiety and Coping Behaviour in Parents and Children During Weaning in PKU: A Case-Control Study
• Metabolomics analysis reveals perturbations of cerebrocortical metabolic pathways in the Pah^enu2 mouse model of phenylketonuria
• Mothers' Views on the Storage and Usage of Their Children's Biological Material Under the Danish Biobanking Model: A Narrative Approach Using Epistemic Injustice
• Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City
• Mutation spectrum of <em>PTS</em> gene in patients with tetrahydrobiopterin deficiency from jiangxi province
• Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants
• Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population
• Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids
• New challenges in management of phenylketonuria in pregnancy: a case report
• Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants
• Newborn screening and genetic features of patients with hyperphenylalaninemia in a southern Chinese population
• Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females
• Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights
• Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women
• Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG)
• Phenylketonuria and the brain
• Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study
• Predictive value of fluorometric method and tandem mass spectrometry for hyperphenylalaninemia and its subtypes in China: A systematic review and meta-analysis
• Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy
• Psychosocial functioning in children with phenylketonuria: Relationships between quality of life and parenting indicators
• Quality of life and associated factors in parents of children with late diagnosed phenylketonuria. A cross sectional study in a developing country (Tunisia)
• Replacement of breastfeeding with medical food for the treatment of galactosemia and phenylketonuria: maternal stress
• RNA-Seq analysis in an avian model of maternal phenylketonuria
• Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe
• Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population
• Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population
• Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province
• Spirituality, a Path to Peace: The Experiences of Parents Who Have Children with Phenylketonuria
• Study of the phenylalanine hydroxylase gene variants in patients with phenylketonuria from Jiangxi province
• Studying the effect of large neutral amino acid supplements on oxidative stress in phenylketonuric patients
• Successful control of maternal phenylketonuria by tetrahydrobiopterin
• The beneficial effect of psychological support on mothers with PKU children who suffer from social discrimination and damage of quality of life
• The effect of PKU diet on the maternal quality of life and social discrimination in relation to their educational status and place of living
• The effects of a self-learning package on mothers' knowledge and practices towards caring for their children with phenylketonuria
• The first study of successful pregnancies in Chinese patients with Phenylketonuria
• The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria
• The Impact of the Quality of Nutrition and Lifestyle in the Reproductive Years of Women with PKU on the Long-Term Health of Their Children
• The phenylketonuria patient: A recent dietetic therapeutic approach
• The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China
• Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia
• Tyrosine supplementation for phenylketonuria