• A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system
• A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency
• Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes
• BH4 supplementation reduces retinal cell death in ischaemic retinopathy
• Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China
• Cardiomyocyte tetrahydrobiopterin synthesis regulates fatty acid metabolism and susceptibility to ischaemia-reperfusion injury
• Catecholamines and Parkinson's disease: tyrosine hydroxylase (TH) over tetrahydrobiopterin (BH4) and GTP cyclohydrolase I (GCH1) to cytokines, neuromelanin, and gene therapy: a historical overview
• Clinical and genetic analysis of 26 Chinese patients with neonatal intrahepatic cholestasis due to citrin deficiency
• Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons
• Current Advances and Material Innovations in the Search for Novel Treatments of Phenylketonuria
• Current Landscape on Development of Phenylalanine and Toxicity of its Metabolites- A Review
• Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach
• Dihydropteridine Reductase Deficiency - A Rare and Potentially Treatable Cause Mimicking Cerebral Palsy
• Diminishing oocyte quality with advancing age is associated with deficiency of nitric oxide synthase cofactors, tetrahydrobiopterin, and zinc, in mouse oocytes
• Disease spectrum and pathogenic genes of inherited metabolic disorder in Gansu Province of China
• DNAJC12 deficiency: Mild hyperphenylalaninemia and neurological impairment in two siblings
• Dysregulation of hepatic one-carbon metabolism in classical homocystinuria: Implications of redox-sensitive DHFR repression and tetrahydrofolate depletion for pathogenesis and treatment
• Emerging biosensors in Phenylketonuria
• Endothelial cell vasodilator dysfunction mediates progressive pregnancy-induced hypertension in endothelial cell tetrahydrobiopterin deficient mice
• Endothelial dysfunction due to eNOS uncoupling: molecular mechanisms as potential therapeutic targets
• Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data
• Evaluation of catatonia in autism and severe depression revealing Phelan-McDermid syndrome and tetrahydrobiopterin deficiency
• GCH1: GTP cyclohydroxylase1: Role in neurodegenerative diseases
• Genetic analysis of eighteen patients from Gansu Province with Tetrahydrobiopterin deficiency
• Genotype characterization of tetrahydrobiopterin deficiency in two Tibetan children
• Genotypic variants of the tetrahydrobiopterin (BH4) biosynthesis genes in patients with hyperphenylalaninemia from different regions of Iran
• GTP Cyclohydrolase Drives Breast Cancer Development and Promotes EMT in an Enzyme-Independent Manner
• GTP cyclohydroxylase1 (GCH1): Role in neurodegenerative diseases
• Identification of two novel DNAJC12 gene variants in a patient with mild hyperphenylalaninemia
• Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency
• Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism
• Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect
• Mechanisms underlying the efficacy and limitation of dopa and tetrahydrobiopterin therapies for the deficiency of GTP cyclohydrolase 1 revealed in a novel mouse model
• Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center
• Mouse models for inherited monoamine neurotransmitter disorders
• Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed
• Novel Role of 5-Methyl-(6S)-Tetrahydrofolate in Mediating Endothelial Cell Tetrahydrobiopterin in Pregnancy and Implications for Gestational Hypertension
• Predictive value of fluorometric method and tandem mass spectrometry for hyperphenylalaninemia and its subtypes in China: A systematic review and meta‑analysis
• Predictors of eventual requirement of phenylalanine-restricted diet in young infants with phenylalanine hydroxylase deficiency initially managed with sapropterin monotherapy
• Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia
• QDPR deficiency drives immune suppression in pancreatic cancer
• Relative Oral Bioavailability and Food Effects of Two Sepiapterin Formulations in Healthy Participants
• Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022
• Reversal of Pulmonary Hypertension in a Human-Like Model: Therapeutic Targeting of Endothelial DHFR
• Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis
• Tetrahydrobiopterin (BH(4) ) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model
• Tetrahydrobiopterin (BH(4)) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model
• Tetrahydrobiopterin (BH₄ ) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model
• Tetrahydrobiopterin metabolism attenuates ROS generation and radiosensitivity through LDHA S-nitrosylation: novel insight into radiogenic lung injury
• The Rationale for Vitamin, Mineral, and Cofactor Treatment in the Precision Medical Care of Autism Spectrum Disorder
• Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review