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Disease on EC 1.5.1.34 - 6,7-dihydropteridine reductase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
4a-hydroxytetrahydrobiopterin dehydratase deficiency
International database of tetrahydrobiopterin deficiencies.
6,7-dihydropteridine reductase deficiency
A disorder of biogenic amines in dihydropteridine reductase deficiency.
A mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes.
Abnormal dendritic development in maple syrup urine disease.
Adverse effects of trimethoprim-sulfamethoxazole in a child with dihydropteridine reductase deficiency.
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.
Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase.
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
Biogenic amine synthesis defect in dihydropteridine reductase deficiency.
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
Brain CT and MR findings in hyperphenylalaninemia due to dihydropteridine reductase deficiency (variant of phenylketonuria).
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.
Cerebral folate deficiency.
Cerebral glucose utilization in pediatric neurological disorders determined by positron emission tomography.
Changes of cerebral biopterin and biogenic amine metabolism in leukemic children receiving 5 g/m2 intravenous methotrexate.
Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone.
Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency.
Congenital errors of folate metabolism.
Cortical dysgenesis in a variant of phenylketonuria (dihydropteridine reductase deficiency).
Cranial computerized tomography in dihydropteridine reductase deficiency.
Diagnosis of dihydropteridine reductase deficiency by erythrocyte enzyme assay.
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
Differential diagnosis of tetrahydrobiopterin deficiency.
Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report.
Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia.
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood cells.
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood-cells.
Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: clinical, biochemical, and neuropathologic findings.
Dihydropteridine reductase deficiency in man: from biology to treatment.
Dihydropteridine reductase deficiency localized to the central nervous system.
Dihydropteridine reductase deficiency variant of phenylketonuria: a disorder of neurotransmitters.
Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation.
Dihydropteridine reductase deficiency: diagnosis by leukocyte enzyme assay.
Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia.
Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test.
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
Dihydropteridine reductase variation in man and the characid fish "Cheirodon axelrodi": evidence for a dimeric enzyme structure.
Dopamine agonists in dihydropteridine reductase deficiency.
Electromyographic alterations in hyperphenylalaninemia due to dihydropteridine reductase deficiency.
Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis.
Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation.
Folinic acid therapy in treatment of dihydropteridine reductase deficiency.
Genetic analysis of partial dihydropteridine reductase deficiency in families with mental retardation.
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.
Genotype-phenotype correlation in dihydropteridine reductase deficiency.
Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.
High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?
Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.
Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes.
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia.
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine.
Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency.
Identification of dihydropteridine reductase in human platelets.
Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.
International database of tetrahydrobiopterin deficiencies.
Intracranial calcification in children on computed tomography.
Intracranial calcification in dihydropteridine reductase deficiency.
Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia.
Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients.
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan.
Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer.
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients.
Molecular basis of dihydropteridine reductase deficiency.
Monoamine neurotransmitter deficiencies.
Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency.
Neonatal screening for dihydropteridine reductase deficiency.
Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.
Neuroblastoma in a patient with dihydropteridine reductase deficiency.
Neurological aspects of biopterin metabolism.
Outcome of Patients With Inherited Neurotransmitter Disorders.
Parkinsonism in Association with Dihydropteridine Reductase Deficiency.
Phenylketonuria due to dihydropteridine reductase deficiency: presentation of two cases.
Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy.
Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency.
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil.
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns.
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling.
Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency.
Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiency.
Tetrahydrobiopterin in dihydropteridine reductase deficiency.
Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein.
Tetrahydrofolate and hydroxocobolamin in the management of dihydropteridine reductase deficiency.
The spectrum of mutations in dihydropteridine reductase deficiency.
The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.
Transdermal rotigotine in dihydropteridine reductase deficiency.
Two mutations of dihydropteridine reductase deficiency.
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.
[Comparative effects of different inhibitors of phenylalanine hydroxylase and dihydropteridine reductase. In vivo and in vitro study in rats]
[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China]
[Malignant hyperphenylalaninemia with dihydropteridine reductase deficiency]
[Progressive convulsive encephalopathy: considering a abnormality of biopterin metabolism]
[Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation-HPD) and abnormalities in pteridin metabolism]
[Treatment of phenylketonuria due to dihydropteridine reductase deficiency]
[Trial of indirect screening of tetrahydrobiopterin deficiency]
6-pyruvoyltetrahydropterin synthase deficiency
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
International database of tetrahydrobiopterin deficiencies.
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Alzheimer Disease
Dihydropteridine reductase activity in dried blood spots: effects of aging and senile dementia of the Alzheimer type.
Tetrahydrobiopterin metabolism in the temporal lobe of patients dying with senile dementia of Alzheimer type.
[Aluminum and dihydropteridine reductase in Alzheimer's disease]
Aneurysm
Intracranial calcification in children on computed tomography.
aromatic-l-amino-acid decarboxylase deficiency
Cerebral folate deficiency.
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Arteriovenous Malformations
Intracranial calcification in children on computed tomography.
Arthritis, Rheumatoid
Urinary neopterin excretion and dihydropteridine reductase activity in rheumatoid arthritis.
Basal Ganglia Diseases
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
Cataract
The enzymatic activities of GTP cyclohydrolase, sepiapterin reductase, dihydropteridine reductase and dihydrofolate reductase; and tetrahydrobiopterin content in mammalian ocular tissues and in human senile cataracts.
Cerebral Infarction
Intracranial calcification in children on computed tomography.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital errors of folate metabolism.
Cysts
Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation.
Cytochrome-c Oxidase Deficiency
Cerebral glucose utilization in pediatric neurological disorders determined by positron emission tomography.
Dehydration
Catalytic characterization of 4a-hydroxytetrahydropterin dehydratase.
Demyelinating Diseases
Cortical dysgenesis in a variant of phenylketonuria (dihydropteridine reductase deficiency).
Drug Resistant Epilepsy
Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation.
Dyskinesias
Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia.
Dystonia
[Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation-HPD) and abnormalities in pteridin metabolism]
Encephalomalacia
Intracranial calcification in children on computed tomography.
Epilepsy
Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.
High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?
The activity of some neurotransmitter-synthetizing enzymes in experimental cobalt epilepsy.
Fetal Growth Retardation
Dihydropteridine reductase activity in the brainstem of intrauterine growth-restricted rats.
Genetic Diseases, Inborn
Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report.
gtp cyclohydrolase i deficiency
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
Differential diagnosis of tetrahydrobiopterin deficiency.
International database of tetrahydrobiopterin deficiencies.
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.
Hematoma, Subdural
Intracranial calcification in children on computed tomography.
Hypoparathyroidism
Intracranial calcification in children on computed tomography.
Infections
Intracranial calcification in children on computed tomography.
Intellectual Disability
Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report.
Genetic analysis of partial dihydropteridine reductase deficiency in families with mental retardation.
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
Kearns-Sayre Syndrome
Cerebral folate deficiency.
Kidney Failure, Chronic
Dihydropteridine reductase activity: lack of association with serum aluminum levels and cognitive functioning in patients with end-stage renal disease.
Lennox Gastaut Syndrome
Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation.
Leukemia
Dihydropteridine reductase activity and neopterin levels in leukemias and lymphomas: is there any correlation between these two parameters?
Lymphoma
Dihydropteridine reductase activity and neopterin levels in leukemias and lymphomas: is there any correlation between these two parameters?
Mastocytoma
NADH-specific dihydropteridine reductase in mastocytoma P-815 cells.
Microcephaly
Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report.
Movement Disorders
Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation.
High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?
Muscle Hypotonia
Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report.
Neoplasms
Dihydropteridine reductase activity of adult, fetal and neoplastic tissues.
Neural Tube Defects
Congenital errors of folate metabolism.
Neuroblastoma
Neuroblastoma in a patient with dihydropteridine reductase deficiency.
Neurofibromatoses
Intracranial calcification in children on computed tomography.
pantoate-beta-alanine ligase (amp-forming) deficiency
Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.
Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.
[Trial of indirect screening of tetrahydrobiopterin deficiency]
Parkinsonian Disorders
Parkinsonism in Association with Dihydropteridine Reductase Deficiency.
phenylalanine 4-monooxygenase deficiency
Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.
Phenylketonurias
A disorder of biogenic amines in dihydropteridine reductase deficiency.
A mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes.
Abnormal dendritic development in maple syrup urine disease.
Adverse effects of trimethoprim-sulfamethoxazole in a child with dihydropteridine reductase deficiency.
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.
Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.
Atypical phenylketonuria with normal dihydropteridine reductase activity.
Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
Atypical PKU with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase.
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
Biogenic amine synthesis defect in dihydropteridine reductase deficiency.
Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
Brain CT and MR findings in hyperphenylalaninemia due to dihydropteridine reductase deficiency (variant of phenylketonuria).
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.
Cerebral folate deficiency.
Cerebral glucose utilization in pediatric neurological disorders determined by positron emission tomography.
Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone.
Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency.
Congenital errors of folate metabolism.
Cortical dysgenesis in a variant of phenylketonuria (dihydropteridine reductase deficiency).
Cranial computerized tomography in dihydropteridine reductase deficiency.
DHPR activity decrease in dried blood spots stored at 4 degrees C.
Diagnosis of dihydropteridine reductase deficiency by erythrocyte enzyme assay.
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
Differential diagnosis of tetrahydrobiopterin deficiency.
Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report.
Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia.
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood cells.
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood-cells.
Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: clinical, biochemical, and neuropathologic findings.
Dihydropteridine reductase deficiency in man: from biology to treatment.
Dihydropteridine reductase deficiency localized to the central nervous system.
Dihydropteridine reductase deficiency variant of phenylketonuria: a disorder of neurotransmitters.
Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation.
Dihydropteridine reductase deficiency: diagnosis by leukocyte enzyme assay.
Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia.
Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test.
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
Dihydropteridine reductase variation in man and the characid fish "Cheirodon axelrodi": evidence for a dimeric enzyme structure.
Dopamine agonists in dihydropteridine reductase deficiency.
Electromyographic alterations in hyperphenylalaninemia due to dihydropteridine reductase deficiency.
Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis.
Excretion of pterins in phenylketonuria and phenylketonuria variants.
Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation.
Folinic acid therapy in treatment of dihydropteridine reductase deficiency.
Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China.
Genetic analysis of partial dihydropteridine reductase deficiency in families with mental retardation.
Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria.
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.
Genotype-phenotype correlation in dihydropteridine reductase deficiency.
Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.
High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?
Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.
Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes.
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia.
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine.
Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency.
Identification of dihydropteridine reductase in human platelets.
Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.
International database of tetrahydrobiopterin deficiencies.
Intracranial calcification in children on computed tomography.
Intracranial calcification in dihydropteridine reductase deficiency.
Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia.
Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients.
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan.
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency.
Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer.
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients.
Molecular basis of dihydropteridine reductase deficiency.
Monoamine neurotransmitter deficiencies.
Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency.
Neonatal screening for dihydropteridine reductase deficiency.
Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.
Neuroblastoma in a patient with dihydropteridine reductase deficiency.
Neurological aspects of biopterin metabolism.
Outcome of Patients With Inherited Neurotransmitter Disorders.
Parkinsonism in Association with Dihydropteridine Reductase Deficiency.
Phenylalanine has no effect on dihydropteridine reductase activity in phenylketonuria fibroblasts.
Phenylketonuria due to a deficiency of dihydropteridine reductase.
Phenylketonuria due to dihydropteridine reductase deficiency: presentation of two cases.
Production of antibodies to sheep liver dihydropteridine reductase: characterization and use to study the enzyme defect in a variant form of phenylketonuria.
Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy.
Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil.
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns.
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling.
Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency.
Tetrahydrobiopterin and inherited hyperphenylalaninemias.
Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiency.
Tetrahydrobiopterin in dihydropteridine reductase deficiency.
Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein.
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese.
Tetrahydrofolate and hydroxocobolamin in the management of dihydropteridine reductase deficiency.
The screening diagnosis of tetrahydrobiopterin deficient phenylketonuria.
The spectrum of mutations in dihydropteridine reductase deficiency.
The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles.
The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.
The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.
Transdermal rotigotine in dihydropteridine reductase deficiency.
Two mutations of dihydropteridine reductase deficiency.
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria.
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.
[Active form of dihydropteridine reductase in human chorion cells. Possibility of prenatal diagnosis]
[Atypical phenylketonuria treatment effectiveness]
[Comparative effects of different inhibitors of phenylalanine hydroxylase and dihydropteridine reductase. In vivo and in vitro study in rats]
[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China]
[Dihydropteridine reductase activity in leukocytes and cultured fibroblasts of health individuals and of patients with the classical form of phenylketonuria]
[Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase]
[Malignant hyperphenylalaninemia with dihydropteridine reductase deficiency]
[Progressive convulsive encephalopathy: considering a abnormality of biopterin metabolism]
[Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation-HPD) and abnormalities in pteridin metabolism]
[Study on tetrahydrobiopterin deficiency in Northern Chinese population]
[The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency]
[Treatment of phenylketonuria due to dihydropteridine reductase deficiency]
[Trial of indirect screening of tetrahydrobiopterin deficiency]
Pheochromocytoma
Regulation of GTP cyclohydrolase I and dihydropteridine reductase in rat pheochromocytoma PC 12 cells.
Studies on dihydropteridine reductase activity in pheochromocytoma cells.
phosphoglycerate dehydrogenase deficiency
Cerebral folate deficiency.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia.
Rett Syndrome
Cerebral folate deficiency.
Seizures
Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency.
Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report.
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Spasm
Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone.
Spasms, Infantile
Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone.
Sturge-Weber Syndrome
Intracranial calcification in children on computed tomography.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Outcome of Patients With Inherited Neurotransmitter Disorders.
Teratoma
[Effect of retinoic acid, dibutyryl cyclic AMP, and nerve growth factor on NADPH-specific dihydropteridine reductase of teratoma 402AX cells in culture]
Uremia
Activities of cerebral dihydropteridine reductase and tyrosine hydroxylase in chronic uremia in rats.
Vitiligo
Perturbed 6-tetrahydrobiopterin recycling via decreased dihydropteridine reductase in vitiligo: more evidence for H2O2 stress.