Disease on EC 1.5.1.34 - 6,7-dihydropteridine reductase
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4a-hydroxytetrahydrobiopterin dehydratase deficiency
International database of tetrahydrobiopterin deficiencies.
6,7-dihydropteridine reductase deficiency
A disorder of biogenic amines in dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
A mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes.
6,7-dihydropteridine reductase deficiency
Abnormal dendritic development in maple syrup urine disease.
6,7-dihydropteridine reductase deficiency
Adverse effects of trimethoprim-sulfamethoxazole in a child with dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.
6,7-dihydropteridine reductase deficiency
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.
6,7-dihydropteridine reductase deficiency
Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase.
6,7-dihydropteridine reductase deficiency
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
6,7-dihydropteridine reductase deficiency
Biogenic amine synthesis defect in dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
6,7-dihydropteridine reductase deficiency
Brain CT and MR findings in hyperphenylalaninemia due to dihydropteridine reductase deficiency (variant of phenylketonuria).
6,7-dihydropteridine reductase deficiency
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
6,7-dihydropteridine reductase deficiency
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.
6,7-dihydropteridine reductase deficiency
Cerebral glucose utilization in pediatric neurological disorders determined by positron emission tomography.
6,7-dihydropteridine reductase deficiency
Changes of cerebral biopterin and biogenic amine metabolism in leukemic children receiving 5 g/m2 intravenous methotrexate.
6,7-dihydropteridine reductase deficiency
Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone.
6,7-dihydropteridine reductase deficiency
Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Cortical dysgenesis in a variant of phenylketonuria (dihydropteridine reductase deficiency).
6,7-dihydropteridine reductase deficiency
Cranial computerized tomography in dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Diagnosis of dihydropteridine reductase deficiency by erythrocyte enzyme assay.
6,7-dihydropteridine reductase deficiency
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
6,7-dihydropteridine reductase deficiency
Differential diagnosis of tetrahydrobiopterin deficiency.
6,7-dihydropteridine reductase deficiency
Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report.
6,7-dihydropteridine reductase deficiency
Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia.
6,7-dihydropteridine reductase deficiency
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood cells.
6,7-dihydropteridine reductase deficiency
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood-cells.
6,7-dihydropteridine reductase deficiency
Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: clinical, biochemical, and neuropathologic findings.
6,7-dihydropteridine reductase deficiency
Dihydropteridine reductase deficiency in man: from biology to treatment.
6,7-dihydropteridine reductase deficiency
Dihydropteridine reductase deficiency localized to the central nervous system.
6,7-dihydropteridine reductase deficiency
Dihydropteridine reductase deficiency variant of phenylketonuria: a disorder of neurotransmitters.
6,7-dihydropteridine reductase deficiency
Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation.
6,7-dihydropteridine reductase deficiency
Dihydropteridine reductase deficiency: diagnosis by leukocyte enzyme assay.
6,7-dihydropteridine reductase deficiency
Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia.
6,7-dihydropteridine reductase deficiency
Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test.
6,7-dihydropteridine reductase deficiency
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
6,7-dihydropteridine reductase deficiency
Dihydropteridine reductase variation in man and the characid fish "Cheirodon axelrodi": evidence for a dimeric enzyme structure.
6,7-dihydropteridine reductase deficiency
Dopamine agonists in dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Electromyographic alterations in hyperphenylalaninemia due to dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis.
6,7-dihydropteridine reductase deficiency
Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation.
6,7-dihydropteridine reductase deficiency
Folinic acid therapy in treatment of dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Genetic analysis of partial dihydropteridine reductase deficiency in families with mental retardation.
6,7-dihydropteridine reductase deficiency
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Genotype-phenotype correlation in dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?
6,7-dihydropteridine reductase deficiency
Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Hyperphenylalaninaemia due to dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes.
6,7-dihydropteridine reductase deficiency
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia.
6,7-dihydropteridine reductase deficiency
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.
6,7-dihydropteridine reductase deficiency
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.
6,7-dihydropteridine reductase deficiency
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine.
6,7-dihydropteridine reductase deficiency
Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Identification of dihydropteridine reductase in human platelets.
6,7-dihydropteridine reductase deficiency
Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
International database of tetrahydrobiopterin deficiencies.
6,7-dihydropteridine reductase deficiency
Intracranial calcification in children on computed tomography.
6,7-dihydropteridine reductase deficiency
Intracranial calcification in dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia.
6,7-dihydropteridine reductase deficiency
Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients.
6,7-dihydropteridine reductase deficiency
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan.
6,7-dihydropteridine reductase deficiency
Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer.
6,7-dihydropteridine reductase deficiency
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients.
6,7-dihydropteridine reductase deficiency
Molecular basis of dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Neonatal screening for dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.
6,7-dihydropteridine reductase deficiency
Neuroblastoma in a patient with dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Outcome of Patients With Inherited Neurotransmitter Disorders.
6,7-dihydropteridine reductase deficiency
Parkinsonism in Association with Dihydropteridine Reductase Deficiency.
6,7-dihydropteridine reductase deficiency
Phenylketonuria due to dihydropteridine reductase deficiency: presentation of two cases.
6,7-dihydropteridine reductase deficiency
Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy.
6,7-dihydropteridine reductase deficiency
Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.
6,7-dihydropteridine reductase deficiency
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency.
6,7-dihydropteridine reductase deficiency
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil.
6,7-dihydropteridine reductase deficiency
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
6,7-dihydropteridine reductase deficiency
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
6,7-dihydropteridine reductase deficiency
Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns.
6,7-dihydropteridine reductase deficiency
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling.
6,7-dihydropteridine reductase deficiency
Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Tetrahydrobiopterin in dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein.
6,7-dihydropteridine reductase deficiency
Tetrahydrofolate and hydroxocobolamin in the management of dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
The spectrum of mutations in dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Transdermal rotigotine in dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Two mutations of dihydropteridine reductase deficiency.
6,7-dihydropteridine reductase deficiency
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
6,7-dihydropteridine reductase deficiency
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.
6,7-dihydropteridine reductase deficiency
[Comparative effects of different inhibitors of phenylalanine hydroxylase and dihydropteridine reductase. In vivo and in vitro study in rats]
6,7-dihydropteridine reductase deficiency
[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China]
6,7-dihydropteridine reductase deficiency
[Malignant hyperphenylalaninemia with dihydropteridine reductase deficiency]
6,7-dihydropteridine reductase deficiency
[Progressive convulsive encephalopathy: considering a abnormality of biopterin metabolism]
6,7-dihydropteridine reductase deficiency
[Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation-HPD) and abnormalities in pteridin metabolism]
6,7-dihydropteridine reductase deficiency
[Treatment of phenylketonuria due to dihydropteridine reductase deficiency]
6,7-dihydropteridine reductase deficiency
[Trial of indirect screening of tetrahydrobiopterin deficiency]
6-pyruvoyltetrahydropterin synthase deficiency
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
6-pyruvoyltetrahydropterin synthase deficiency
International database of tetrahydrobiopterin deficiencies.
6-pyruvoyltetrahydropterin synthase deficiency
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
6-pyruvoyltetrahydropterin synthase deficiency
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.
Alzheimer Disease
Tetrahydrobiopterin metabolism in the temporal lobe of patients dying with senile dementia of Alzheimer type.
aromatic-l-amino-acid decarboxylase deficiency
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
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.
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.
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]
Epilepsy
Epilepsy in inherited neurotransmitter disorders: Spotlights on pathophysiology and clinical management.
Epilepsy
High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?
Epilepsy
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.
gtp cyclohydrolase i deficiency
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
gtp cyclohydrolase i deficiency
The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.
Intellectual Disability
Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report.
Intellectual Disability
Genetic analysis of partial dihydropteridine reductase deficiency in families with mental retardation.
Intellectual Disability
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
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?
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.
Movement Disorders
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.
pantoate-beta-alanine ligase (amp-forming) deficiency
Pterin metabolism in normal subjects and hyperphenylalaninaemic patients.
pantoate-beta-alanine ligase (amp-forming) deficiency
Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.
pantoate-beta-alanine ligase (amp-forming) 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 mild case of dihydropteridine reductase deficiency with residual activity in erythrocytes.
Phenylketonurias
Adverse effects of trimethoprim-sulfamethoxazole in a child with dihydropteridine reductase deficiency.
Phenylketonurias
Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.
Phenylketonurias
Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection.
Phenylketonurias
Atypical phenylketonuria caused by 7, 8-dihydrobiopterin synthetase deficiency.
Phenylketonurias
Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
Phenylketonurias
Atypical PKU with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro.
Phenylketonurias
Basal ganglion calcification in hyperphenylalaninemia due to deficiency of dihydropteridine reductase.
Phenylketonurias
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
Phenylketonurias
Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.
Phenylketonurias
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
Phenylketonurias
Brain CT and MR findings in hyperphenylalaninemia due to dihydropteridine reductase deficiency (variant of phenylketonuria).
Phenylketonurias
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Phenylketonurias
Catalytic activity of tetrahydrobiopterin in dihydropteridine reductase deficiency and indications for treatment.
Phenylketonurias
Cerebral glucose utilization in pediatric neurological disorders determined by positron emission tomography.
Phenylketonurias
Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone.
Phenylketonurias
Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency.
Phenylketonurias
Cortical dysgenesis in a variant of phenylketonuria (dihydropteridine reductase deficiency).
Phenylketonurias
Diagnosis of dihydropteridine reductase deficiency by erythrocyte enzyme assay.
Phenylketonurias
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
Phenylketonurias
Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report.
Phenylketonurias
Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia.
Phenylketonurias
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood cells.
Phenylketonurias
Dihydropteridine reductase deficiency diagnosis by assays on peripheral blood-cells.
Phenylketonurias
Dihydropteridine reductase deficiency in a large consanguineous Tunisian family: clinical, biochemical, and neuropathologic findings.
Phenylketonurias
Dihydropteridine reductase deficiency localized to the central nervous system.
Phenylketonurias
Dihydropteridine reductase deficiency variant of phenylketonuria: a disorder of neurotransmitters.
Phenylketonurias
Dihydropteridine Reductase Deficiency: A Treatable Neurotransmitter Movement Disorder Masquerading as Refractory Epilepsy Due to Novel Mutation.
Phenylketonurias
Dihydropteridine reductase deficiency: diagnosis by leukocyte enzyme assay.
Phenylketonurias
Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia.
Phenylketonurias
Dihydropteridine reductase deficiency: non-response to oral tetrahydrobiopterin load test.
Phenylketonurias
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
Phenylketonurias
Dihydropteridine reductase variation in man and the characid fish "Cheirodon axelrodi": evidence for a dimeric enzyme structure.
Phenylketonurias
Electromyographic alterations in hyperphenylalaninemia due to dihydropteridine reductase deficiency.
Phenylketonurias
Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis.
Phenylketonurias
Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation.
Phenylketonurias
Folinic acid therapy in treatment of dihydropteridine reductase deficiency.
Phenylketonurias
Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China.
Phenylketonurias
Genetic analysis of partial dihydropteridine reductase deficiency in families with mental retardation.
Phenylketonurias
Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria.
Phenylketonurias
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.
Phenylketonurias
Heterogeneity of the molecular defect in human dihydropteridine reductase deficiency.
Phenylketonurias
High prolactin levels in dihydropteridine reductase deficiency: A sign of therapy failure or additional pathology?
Phenylketonurias
Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.
Phenylketonurias
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia.
Phenylketonurias
Hyperphenylalaninemia due to dihydropteridine reductase deficiency. Assay of the enzyme in fibroblasts from affected infants, heterozygotes, and in normal amniotic fluid cells.
Phenylketonurias
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by enzyme assays on dried blood spots.
Phenylketonurias
Hyperphenylalaninemia due to dihydropteridine reductase deficiency: diagnosis by measurement of oxidized and reduced pterins in urine.
Phenylketonurias
Identification and in vitro expression of mutations causing dihydropteridine reductase deficiency.
Phenylketonurias
Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.
Phenylketonurias
Issues for consideration in dihydropteridine reductase (DHPR) deficiency: a variant form of hyperphenylalaninaemia.
Phenylketonurias
Juvenile form of dihydropteridine reductase deficiency in 2 Tunisian patients.
Phenylketonurias
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan.
Phenylketonurias
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency.
Phenylketonurias
Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer.
Phenylketonurias
Molecular analysis of dihydropteridine reductase deficiency: identification of two novel mutations in Japanese patients.
Phenylketonurias
Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency.
Phenylketonurias
Neopterin and biopterin levels in patients with atypical forms of phenylketonuria.
Phenylketonurias
Phenylalanine has no effect on dihydropteridine reductase activity in phenylketonuria fibroblasts.
Phenylketonurias
Phenylketonuria due to dihydropteridine reductase deficiency: presentation of two cases.
Phenylketonurias
Production of antibodies to sheep liver dihydropteridine reductase: characterization and use to study the enzyme defect in a variant form of phenylketonuria.
Phenylketonurias
Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy.
Phenylketonurias
QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
Phenylketonurias
Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil.
Phenylketonurias
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Phenylketonurias
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.
Phenylketonurias
Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns.
Phenylketonurias
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling.
Phenylketonurias
Tetrahydrobiopterin and "non-responsive" dihydropteridine reductase deficiency.
Phenylketonurias
Tetrahydrobiopterin and quinonoid dihydrobiopterin concentrations in CSF from patients with dihydropteridine reductase deficiency.
Phenylketonurias
Tetrahydrobiopterin non-responsiveness in dihydropteridine reductase deficiency is associated with the presence of mutant protein.
Phenylketonurias
Tetrahydrofolate and hydroxocobolamin in the management of dihydropteridine reductase deficiency.
Phenylketonurias
The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles.
Phenylketonurias
The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.
Phenylketonurias
The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency.
Phenylketonurias
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.
Phenylketonurias
Urinary dihydroxanthopterin in the diagnosis of malignant hyperphenylalaninemia and phenylketonuria.
Phenylketonurias
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Phenylketonurias
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.
Phenylketonurias
[Active form of dihydropteridine reductase in human chorion cells. Possibility of prenatal diagnosis]
Phenylketonurias
[Comparative effects of different inhibitors of phenylalanine hydroxylase and dihydropteridine reductase. In vivo and in vitro study in rats]
Phenylketonurias
[Diagnosis, treatment and gene mutation analysis of the first case with dihydropteridine reductase deficiency in the mainland of China]
Phenylketonurias
[Dihydropteridine reductase activity in leukocytes and cultured fibroblasts of health individuals and of patients with the classical form of phenylketonuria]
Phenylketonurias
[Hyperphenylalaninaemia with normal phenylalanine-hydroxylase activity and a deficiency of tetrahydrobiopterin and dihydropteridine reductase]
Phenylketonurias
[Malignant hyperphenylalaninemia with dihydropteridine reductase deficiency]
Phenylketonurias
[Progressive convulsive encephalopathy: considering a abnormality of biopterin metabolism]
Phenylketonurias
[Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation-HPD) and abnormalities in pteridin metabolism]
Phenylketonurias
[The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency]
Phenylketonurias
[Treatment of phenylketonuria due to dihydropteridine reductase deficiency]
Pheochromocytoma
Regulation of GTP cyclohydrolase I and dihydropteridine reductase in rat pheochromocytoma PC 12 cells.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia.
Seizures
Clinical characteristics of epileptic seizures in a case of dihydropteridine reductase deficiency.
Seizures
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.
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.
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