Article
Open Access
Non-responsive Dihydropteridine Reductase Deficiency
-
R. Cerone
Published/Copyright:
August 20, 2013
Published Online: 2013-08-20
Published in Print: 1991-02
© 2013 by Walter de Gruyter GmbH & Co.
Articles in the same Issue
- Pterins, Folates and Biogenic Amines in Neurology, Pediatrics and Immunology: Preface
- Molecular Basis for the Phenotypic Diversity of Phenylketonuria
- Molecular Basis of Phenylketonuria in Italy
- Monitoring Treatment in Tetrahydrobiopterin Deficiency
- Prenatal Diagnosis of Tetrahydrobiopterin (BH4) Synthase Deficiency
- Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy
- Non-responsive Dihydropteridine Reductase Deficiency
- 7-Substituted Pterins: Loading Experiments with 3'-Mono Deuterated Tetrahydro-L-Biopterin
- 7-Substituted Pterins: Formation in Carbinolamine Dehydratase Deficiency
- Primapterinuria: A Clinical Update
- Fetal Guinea-Pig Model for Tetrahydrobiopterin Deficiency
- Intravenous Infusion of High Dose Methotrexate, Metabolism of Pteridines and Consequences for the Tetrahydrobiopterin Dependent Hydroxylases
- Cloning and Sequencing of cDNA Encoding Human Sepiapterin Reductase
- 6-Pyruvoyl Tetrahydropterin Synthase in Human Tissues and Cell Lines
- Stereostructure and Reactivity of 6-Pyruvoyl Tetrahydropterin Molecule Estimated by Molecular-Orbital Method
- Current Knowledge on Pteridine Dependence of Nitric Oxide Synthase
- (6R)-5,6,7,8-Tetrahydro-L-Biopterin-Dependent Activation of Soluble Guanylate Cyclase in the Rat Cerebellum is Mediated by Nitric Oxide Formation
- Tetrahydrobiopterin-Dependent Conversion of L-Arginine to L-Citrulline and Nitric Oxide in Murine and Human Cells
- Human Liver Pterin 4 a-Carbinolamine Dehydratase. Purification and Characterization
- Biochemical and Immunological Characterization of Rat and Human Phenylalanine Hydroxylase
- Tryptophan Hydroxylase and Protein Kinase Interactions; Does Phosphorylation Cause Activation?
- Molecular Mechanisms of Tetrahydrobiopterin Action on Neurotransmitter Release
- Age-Related Changes in Brain 6R-L-erythro-5,6,7,8-Tetrahydrobiopterin (R-THBP) and Biogenic Amine Levels in Fischer-344 Rats
- Effect of Nerve Growth Factor and Dibutyryl Cyclic AMP on Biopterin and Catecholamine Levels of PC12h Pheochromocytoma Cells
- Relationship between Seasonal Colour Dimorphism and Pteridines in the Scorpion Fly, Panorpa japonica, Thunberg
- Effects of Environmental Conditions on Urinary Biopterin and Catecholamines in Rats
- Reduced Pterins of the Retina in Response to Light Exposure
- Identification of Pterin Binding Sites on Class I HLA Molecules Associated with the Interleukin 2 Receptor
- Biopterin and Neopterin Serum Levels in Trypanosoma-infected dogs
- Mechanism of Interferon Induction and Pteridine Production in HIV Infection
- Cytokines and Viral Gene Products as Regulators of Pterin Synthesis in Cells of the Immune System
- New Pteridine Assay System Using Automated Sequential Trace Enrichment of Dialysates
- Biopterin and Neopterin in Various Milks and Infant Formulas
- Pterin Chemistry, Part 91. Synthesis and Crystal Structure of the First Molybdenum (IV)-q-dihydro-L-Biopterin Complex
- Glyceryl Etherase [EC 1.14.16.5] from Rat Liver: A Convenient Assay for Structure-Activity Relationship Studies
- A New Scalable Route to Resolving the α-Monoesters of dl 5-Formyl 5,6,7,8-Tetrahydropteroylmono-L-Glutamic Acid
- Synthesis and Properties of N-(α-Aminoacyl) Derivatives of Methotrexate
- 13C-Labelled Folates as NMR Probes of the Binding of Folate to Bacterial Dihydrofolate Reductases
- Isomer Distributions and Separation of 6- and 7- Methyl-8-Alkyl Pterins
- NMR Studies of the Structures and Degradation of 8-(2’-Hydroxyethyl)Pterins
- Progress on the Unambiguous Synthesis of S-Methyl-7,8-dihydropterin
- Use of SCX HPLC in the Study of 8-Alkyl-Pterins and their Reduced Derivatives
- Characterization of Mechanisms Mediating Drug Resistance in Human Leukemic Cells Selected with High Concentration Methotrexate
- Interactions of Methotrexate, Trimetrexate and Piritrexim with Human and L. casei Dihydrofolate Reductases — Steady State Inhibition Constants and Dissociation Rates
- Activation of Methotrexate Prodrugs by Enzyme/Monoclonal Antibody Conjugates
- New Insights into the Roles of Critical Residues in the Active Site of Thymidylate Synthase: Results from Site-Directed Mutagenesis Interpreted in Light of a “High- Resolution” Kinetic Mechanism for Wild-Type Enzyme
- Affinity Purification of Folate Transport Proteins Using Biotin Derivatives of Methotrexate and Folate
- Inhibition of Amido Phosphoribosyltransferase by Antifolates in Mouse L1210 Leukaemia Cells
- The Function of the Active Site Glutamate in Human Dihydrofolate Reductase
- Prediction of Relative Binding Constants of Cofactors and Designed Ligands to Dihydrofolate Reductase by Computer Simulation
- Biochemical Effects of Folate Radiated with the Mild Energy of Far-Infrared Waves
- Antiatherogenic Effect of Folic Acid in Alcoholism
- Preconceptional Supplementation with Folic Acid to Prevent Recurrences and Occurences with Neural Tube Defects
- Pharmacokinetics of High Dose Continuous Infusion (6S)-Folinic Acid in Humans
- Measurement of 5-Methyltetrahydrofolate in Cerebrospinal Fluid Using HPLC with Coulometric Electrochemical Detection
- Folate, Homocysteine and Monoamine Metabolism in Depression
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Articles in the same Issue
- Pterins, Folates and Biogenic Amines in Neurology, Pediatrics and Immunology: Preface
- Molecular Basis for the Phenotypic Diversity of Phenylketonuria
- Molecular Basis of Phenylketonuria in Italy
- Monitoring Treatment in Tetrahydrobiopterin Deficiency
- Prenatal Diagnosis of Tetrahydrobiopterin (BH4) Synthase Deficiency
- Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy
- Non-responsive Dihydropteridine Reductase Deficiency
- 7-Substituted Pterins: Loading Experiments with 3'-Mono Deuterated Tetrahydro-L-Biopterin
- 7-Substituted Pterins: Formation in Carbinolamine Dehydratase Deficiency
- Primapterinuria: A Clinical Update
- Fetal Guinea-Pig Model for Tetrahydrobiopterin Deficiency
- Intravenous Infusion of High Dose Methotrexate, Metabolism of Pteridines and Consequences for the Tetrahydrobiopterin Dependent Hydroxylases
- Cloning and Sequencing of cDNA Encoding Human Sepiapterin Reductase
- 6-Pyruvoyl Tetrahydropterin Synthase in Human Tissues and Cell Lines
- Stereostructure and Reactivity of 6-Pyruvoyl Tetrahydropterin Molecule Estimated by Molecular-Orbital Method
- Current Knowledge on Pteridine Dependence of Nitric Oxide Synthase
- (6R)-5,6,7,8-Tetrahydro-L-Biopterin-Dependent Activation of Soluble Guanylate Cyclase in the Rat Cerebellum is Mediated by Nitric Oxide Formation
- Tetrahydrobiopterin-Dependent Conversion of L-Arginine to L-Citrulline and Nitric Oxide in Murine and Human Cells
- Human Liver Pterin 4 a-Carbinolamine Dehydratase. Purification and Characterization
- Biochemical and Immunological Characterization of Rat and Human Phenylalanine Hydroxylase
- Tryptophan Hydroxylase and Protein Kinase Interactions; Does Phosphorylation Cause Activation?
- Molecular Mechanisms of Tetrahydrobiopterin Action on Neurotransmitter Release
- Age-Related Changes in Brain 6R-L-erythro-5,6,7,8-Tetrahydrobiopterin (R-THBP) and Biogenic Amine Levels in Fischer-344 Rats
- Effect of Nerve Growth Factor and Dibutyryl Cyclic AMP on Biopterin and Catecholamine Levels of PC12h Pheochromocytoma Cells
- Relationship between Seasonal Colour Dimorphism and Pteridines in the Scorpion Fly, Panorpa japonica, Thunberg
- Effects of Environmental Conditions on Urinary Biopterin and Catecholamines in Rats
- Reduced Pterins of the Retina in Response to Light Exposure
- Identification of Pterin Binding Sites on Class I HLA Molecules Associated with the Interleukin 2 Receptor
- Biopterin and Neopterin Serum Levels in Trypanosoma-infected dogs
- Mechanism of Interferon Induction and Pteridine Production in HIV Infection
- Cytokines and Viral Gene Products as Regulators of Pterin Synthesis in Cells of the Immune System
- New Pteridine Assay System Using Automated Sequential Trace Enrichment of Dialysates
- Biopterin and Neopterin in Various Milks and Infant Formulas
- Pterin Chemistry, Part 91. Synthesis and Crystal Structure of the First Molybdenum (IV)-q-dihydro-L-Biopterin Complex
- Glyceryl Etherase [EC 1.14.16.5] from Rat Liver: A Convenient Assay for Structure-Activity Relationship Studies
- A New Scalable Route to Resolving the α-Monoesters of dl 5-Formyl 5,6,7,8-Tetrahydropteroylmono-L-Glutamic Acid
- Synthesis and Properties of N-(α-Aminoacyl) Derivatives of Methotrexate
- 13C-Labelled Folates as NMR Probes of the Binding of Folate to Bacterial Dihydrofolate Reductases
- Isomer Distributions and Separation of 6- and 7- Methyl-8-Alkyl Pterins
- NMR Studies of the Structures and Degradation of 8-(2’-Hydroxyethyl)Pterins
- Progress on the Unambiguous Synthesis of S-Methyl-7,8-dihydropterin
- Use of SCX HPLC in the Study of 8-Alkyl-Pterins and their Reduced Derivatives
- Characterization of Mechanisms Mediating Drug Resistance in Human Leukemic Cells Selected with High Concentration Methotrexate
- Interactions of Methotrexate, Trimetrexate and Piritrexim with Human and L. casei Dihydrofolate Reductases — Steady State Inhibition Constants and Dissociation Rates
- Activation of Methotrexate Prodrugs by Enzyme/Monoclonal Antibody Conjugates
- New Insights into the Roles of Critical Residues in the Active Site of Thymidylate Synthase: Results from Site-Directed Mutagenesis Interpreted in Light of a “High- Resolution” Kinetic Mechanism for Wild-Type Enzyme
- Affinity Purification of Folate Transport Proteins Using Biotin Derivatives of Methotrexate and Folate
- Inhibition of Amido Phosphoribosyltransferase by Antifolates in Mouse L1210 Leukaemia Cells
- The Function of the Active Site Glutamate in Human Dihydrofolate Reductase
- Prediction of Relative Binding Constants of Cofactors and Designed Ligands to Dihydrofolate Reductase by Computer Simulation
- Biochemical Effects of Folate Radiated with the Mild Energy of Far-Infrared Waves
- Antiatherogenic Effect of Folic Acid in Alcoholism
- Preconceptional Supplementation with Folic Acid to Prevent Recurrences and Occurences with Neural Tube Defects
- Pharmacokinetics of High Dose Continuous Infusion (6S)-Folinic Acid in Humans
- Measurement of 5-Methyltetrahydrofolate in Cerebrospinal Fluid Using HPLC with Coulometric Electrochemical Detection
- Folate, Homocysteine and Monoamine Metabolism in Depression