Published in Mol Genet Metab on April 01, 2009
The Effectiveness of Kuvan in Amish PKU Patients | NCT02677870
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. J Inherit Metab Dis (2012) 1.44
Up to date knowledge on different treatment strategies for phenylketonuria. Mol Genet Metab (2011) 1.02
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria. Mol Genet Metab (2010) 0.92
Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries. Orphanet J Rare Dis (2015) 0.89
Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing. Sci Rep (2015) 0.88
Tetrahydrobiopterin responsiveness after extended loading test of 12 Danish PKU patients with the Y414C mutation. J Inherit Metab Dis (2010) 0.85
Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria. J Inherit Metab Dis (2012) 0.84
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. Orphanet J Rare Dis (2013) 0.83
Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria. Pediatr Res (2015) 0.83
Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S. JIMD Rep (2012) 0.79
The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness. JIMD Rep (2013) 0.79
Mutational spectrum of phenylketonuria in Jiangsu province. Eur J Pediatr (2015) 0.78
Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population. Genet Test Mol Biomarkers (2011) 0.78
New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride. Biologics (2010) 0.77
Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study. JIMD Rep (2013) 0.77
Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response? JIMD Rep (2011) 0.76
The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe. J Inherit Metab Dis (2012) 0.75
Sapropterin Dihydrochloride Mixed With Common Foods and Beverages. Top Clin Nutr (2014) 0.75
Phenylketonuria: translating research into novel therapies. Transl Pediatr (2014) 0.75
Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria. Mol Genet Metab Rep (2017) 0.75
The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients. Sci Rep (2017) 0.75
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome. N Engl J Med (2005) 3.17
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med (2015) 2.77
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
Regulation of tetrahydrobiopterin biosynthesis by shear stress. Circ Res (2007) 2.01
Glyceroluria and neonatal hemochromatosis. J Pediatr Gastroenterol Nutr (2012) 1.98
Gene expression profiling of inflamed human endothelial cells and influence of activated protein C. Circulation (2004) 1.81
Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease. Am J Hum Genet (2011) 1.63
Tetrahydrobiopterin: biochemistry and pathophysiology. Biochem J (2011) 1.61
State-of-the-art 2003 on PKU gene therapy. Mol Genet Metab (2004) 1.51
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat (2006) 1.51
Cerebral folate deficiency. Dev Med Child Neurol (2004) 1.38
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci U S A (2004) 1.32
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration. Mol Genet Metab (2004) 1.29
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab (2007) 1.28
Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria. J Clin Invest (2008) 1.26
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis (2012) 1.23
Influence of early stress on social abilities and serotonergic functions across generations in mice. PLoS One (2011) 1.22
A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome. Dev Med Child Neurol (2008) 1.19
Mutations in human monoamine-related neurotransmitter pathway genes. Hum Mutat (2008) 1.19
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat (2008) 1.13
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain (2010) 1.13
Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria. Mol Genet Metab (2005) 1.10
Cerebral folate deficiency: life-changing supplementation with folinic acid. Mol Genet Metab (2005) 1.10
Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system. Mol Ther (2008) 1.05
Atypical presentation of distal renal tubular acidosis in two siblings. Pediatr Nephrol (2008) 1.04
Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria. J Pediatr (2007) 1.04
Challenges and pitfalls in the management of phenylketonuria. Pediatrics (2010) 1.04
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab (2006) 1.03
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper. Mol Genet Metab (2005) 1.03
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency. Neurology (2006) 1.03
Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. J Biol Chem (2003) 1.02
Long-term treatment of patients with mild and classical phenylketonuria by tetrahydrobiopterin. Mol Genet Metab (2005) 1.02
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Mol Genet Metab (2005) 1.01
Treatment of phenylketonuria using minicircle-based naked-DNA gene transfer to murine liver. Hepatology (2014) 1.00
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol (2012) 1.00
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study. Pediatrics (2013) 0.98
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002. Mol Genet Metab (2002) 0.98
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. Mol Genet Metab (2010) 0.96
Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? Mov Disord (2006) 0.96
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. Mol Genet Metab (2012) 0.95
Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria. Hum Mutat (2013) 0.95
Tumor necrosis factor alpha inhibits erythroid differentiation in human erythropoietin-dependent cells involving p38 MAPK pathway, GATA-1 and FOG-1 downregulation and GATA-2 upregulation. Biochem Pharmacol (2008) 0.95
A simple selection strategy for evolving highly efficient enzymes. Nat Biotechnol (2007) 0.95
Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. Hum Mutat (2009) 0.95
The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response. Hum Mol Genet (2011) 0.93
Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase. J Neurochem (2008) 0.92
Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. Neurogenetics (2004) 0.91
Long-term glial cell line-derived neurotrophic factor overexpression in the intact nigrostriatal system in rats leads to a decrease of dopamine and increase of tetrahydrobiopterin production. J Neurochem (2005) 0.90
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy. Pediatr Neurol (2006) 0.90
Defining tetrahydrobiopterin (BH4)-responsiveness in PKU. J Inherit Metab Dis (2008) 0.90
Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency. Mol Genet Metab (2002) 0.90
Functional tetrahydrobiopterin synthesis in human platelets. Circulation (2004) 0.89
Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria. Hum Gene Ther (2010) 0.88
Nephrolithiasis in a child with glucose-galactose malabsorption. Pediatr Nephrol (2003) 0.87
Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11. Mol Genet Metab (2012) 0.87
There is no doubt that the early identification of PKU and prompt and continuous intervention prevents mental retardation in most patients. Mol Genet Metab (2011) 0.87
Analysis of 5-methyltetrahydrofolate in serum of healthy children. Mol Genet Metab (2005) 0.87
Cerebral folate deficiency: a neurometabolic syndrome? Mol Genet Metab (2011) 0.86
Nuclear localization of tetrahydrobiopterin biosynthetic enzymes. Biochim Biophys Acta (2004) 0.86
Differential metabolic consequences of fumarate hydratase and respiratory chain defects. Biochim Biophys Acta (2008) 0.86
A single mutation at Tyr143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide-adenine dinucleotide. Biochem J (2006) 0.85
Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants. Mol Genet Metab (2010) 0.85
Late diagnosis of primary hyperoxaluria after failed kidney transplantation. Int Urol Nephrol (2009) 0.84
The molecular basis of phenylalanine hydroxylase deficiency in Croatia. Hum Mutat (2003) 0.84
Inactivity of nitric oxide synthase gene in the atherosclerotic human carotid artery. Basic Res Cardiol (2007) 0.84
Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2. J Neurochem (2010) 0.84
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. Ann Neurol (2007) 0.84
The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria. Mol Genet Metab (2004) 0.84
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). Mol Genet Metab (2011) 0.84
Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values. J Inherit Metab Dis (2010) 0.84
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency. J Neurochem (2002) 0.83
Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice. Mol Genet Metab (2005) 0.83
Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes. Mol Genet Metab (2013) 0.83
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. Orphanet J Rare Dis (2013) 0.83
The cerebrospinal fluid level of 5-methylterahydrofolate in a Japanese boy with hypomyelination with atrophy of the basal ganglia and cerebellum. Tohoku J Exp Med (2007) 0.83
Advances and challenges in phenylketonuria. J Inherit Metab Dis (2010) 0.83
S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes. J Inherit Metab Dis (2010) 0.83