Page last updated: 2024-08-17

levodopa and BH4 Deficiency

levodopa has been researched along with BH4 Deficiency in 55 studies

Research

Studies (55)

Timeframe	Studies, this research(%)	All Research%
pre-1990	19 (34.55)	18.7374
1990's	10 (18.18)	18.2507
2000's	15 (27.27)	29.6817
2010's	9 (16.36)	24.3611
2020's	2 (3.64)	2.80

Authors

Authors	Studies
Hammoodi, HZ; Kareem, AA; Thoalnoon, OA	1
Chang, TM; Chen, HA; Chien, YH; Hsu, RH; Hwu, WL; Lee, NC	1
Jeon, BS; Kim, JM; Lee, JY; Yang, HJ	1
Cao, Z; Han, B; Liu, Y; Zhu, W; Zou, H	1
Ponzone, A; Porta, F; Spada, M	1
Hinz, AB; Hoffmann, G; Hörster, F; Klein, C; Neidhardt, K; Opladen, T; Wolf, N	1
Blau, N; Dill, P; Somerville, A; Thöny, B; Wagner, M; Weber, P	1
Concolino, D; Mussa, A; Ponzone, A; Porta, F; Spada, M	1
Andolina, D; Cabib, S; Conversi, D; Cruciani, F; Giacovazzo, G; Pascucci, T; Puglisi-Allegra, S	1
Ohwada, M; Shintaku, H	1
Blau, N; Hoffmann, GF; Kühn, AA; Opladen, T	1
Furukawa, Y	1
Arai, H; Fujihara, K; Ichinose, H; Itoyama, Y; Kikuchi, A; Kimpara, T; Nagai, M; Okamura, N; Shiga, Y; Takeda, A; Tanji, H; Urano, F	1
Costa, DC; Evans, AH; Gacinovic, S; Heales, S; Katzenschlager, R; Lee, P; Lees, AJ; O'sullivan, JD	1
Chien, YH; Hwu, WL; Liu, HM; Peng, SS; Tseng, WY	1
Blau, N; Connolly, MB; Demos, MK; Hyland, K; Lillquist, Y; Makhseed, N; Vallance, HD; Waters, PJ	1
Blau, N; de Villemeur, TB; Doummar, D; Moller, LB; Roubergue, A; Roze, E; Vidailhet, M	1
Cheng, LY; Chiu, PC; Hsiao, KJ; Lee, NC; Liu, TT; Niu, DM	1
Chang, M; Fu, GX; He, C; Hsiao, KJ; Li, XW; Liu, TT; Shen, M; Shen, S; Wang, L; Yu, WM; Zhao, SP	1
Agid, Y; Blau, N; Remy, P; Ribeiro, MJ; Saudubray, JM; Sedel, F	1
Cheng, LY; Hsiao, KJ; Lee, NC; Liu, KM; Liu, TT; Niu, DM	1
Concolino, D; Moricca, MT; Muzzi, G; Pascale, MG; Rapsomaniki, M; Strisciuglio, P	1
Merzel, J; Raw, I; Schmidt, BJ	1
Dement'eva, NF; Ermolina, LA; Ezhkova, VA; Mozhaeva, EG	1
Boespflug, O; Demeocq, F; Guyon, A; Malpuech, G; Piton, A; Vanlieferinghen, P	1
Curtius, HC; Endres, W; Niederwieser, A; Ohrt, B; Schaub, J; Wang, M	1
Farquhar, JW; Ledingham, JG; MacLeod, MD; Munro, JF	1
Fagioli, I; Rey, F; Salomon, F; Salzarulo, P	1
Goldstein, DS; Hahn, SH; Harvey-White, J; Holmes, C; Kaufman, S; Milstien, S; Tifft, C	1
Colombo, JP; Fünders, B; Oberwittler, C; Pietsch, M; Ullrich, K; van Eckhardstein, H; Weglage, J	1
Blau, N; Dhondt, JL	1
Colombo, JP; Fünders, B; Oberwittler, C; Pietsch, M; Ullrich, K; von Eckardstein, H; Weglage, J	1
Bieglmayer, C; Birnbacher, R; Blau, N; Frisch, H; Scheibenreiter, S; Waldhauser, F	1
Hachimori, K; Hagiwara, H; Nishiyama, N; Nomura, Y; Segawa, M; Tanaka, R; Tanaka, T; Uetake, K; Yukishita, S	1
Dhondt, JL; Mikaeloff, Y; Pinton, F; Ponsot, G; Sevin, C	1
Blonder, J; Peled, I; Schwartz, G; Sela, B	1
Blau, N; Dudesek, A; Leupold, D; Muntau, AC; Röschinger, W; Seidel, J; Thöny, B	1
Chiang, SH; Hsiao, KJ; Liu, TT; Wu, SJ	1
Chiang, SC; Chien, YH; Chiu, YN; Chou, SP; Chu, SY; Huang, A; Hwu, WL; Lin, JM; Wang, TR	1
Butler, IJ; Koslow, SH	1
Butler, IJ; Holtzman, NA; Kaufman, S; Koslow, SH; Krumholz, A	1
Bartholomé, K; Byrd, DJ	1
Burton, JL; Goolamali, SK; Shuster, S	1
Moskowitz, MA; Wurtman, RJ	1
Gerstenbrand, F; Gründig, E; Weiss, J	1
Luchins, D	1
Bartholomé, K; Byrd, DJ; Kaufman, S; Milstien, S	1
Abroms, IF; Breslow, JL; Brewster, TG; Kaufman, S; Milstien, S; Moskowitz, MA	1
Brusov, OS; Lideman, RR	1
Cotton, RG; Earl, JW; Lipson, AH; O'Halloran, M; Wilcken, B; Yu, JS	1
Hyland, K; Surtees, R	1
Biasetti, S; Bracco, G; Ferraris, S; Guardamagna, O; Niederwieser, A; Ponzone, A	1
Butler, IJ; Irons, M; Kaufman, S; Langlais, PJ; Levy, HL; Milstien, S; O'Flynn, ME; Stack, CV	1
Averbook, A; Dembure, P; Elsas, L; Epstein, C; Krause, W	1
Blonder, J; Cohen, BE; Normand, M; Peled, I; Quint, J; Szeinberg, A	1

Reviews

5 review(s) available for levodopa and BH4 Deficiency

Article	Year
Late-onset symptomatic hyperprolactinemia in 6-pyruvoyl-tetrahydropterin synthase deficiency. Orphanet journal of rare diseases, 2023, Nov-10, Volume: 18, Issue:1 Topics: Adolescent; Adult; Cabergoline; Female; Humans; Hyperprolactinemia; Infant, Newborn; Levodopa; Male; Phenylketonurias; Prolactin	2023
Update on dopa-responsive dystonia: locus heterogeneity and biochemical features. Advances in neurology, 2004, Volume: 94 Topics: Antiparkinson Agents; Brain Chemistry; Dystonia; Family Health; Genetic Heterogeneity; Genetic Linkage; GTP Cyclohydrolase; Humans; Levodopa; Motor Activity; Mutation; Parkinson Disease, Secondary; Phenylketonurias; Tyrosine 3-Monooxygenase	2004
[Therapy and social adaptation of patients with mental retardation (a review of the literature)]. Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952), 1981, Volume: 81, Issue:3 Topics: Adolescent; Antidepressive Agents; Antipsychotic Agents; Attention Deficit Disorder with Hyperactivity; Central Nervous System Stimulants; Cerebral Palsy; Child; Child, Preschool; Down Syndrome; Education of Intellectually Disabled; Humans; Infant; Intellectual Disability; Levodopa; Male; Phenylketonurias; Rehabilitation, Vocational; Social Adjustment	1981
Catecholamines and neurologic diseases (second of two parts). The New England journal of medicine, 1975, Aug-14, Volume: 293, Issue:7 Topics: Animals; Attention Deficit Disorder with Hyperactivity; Brain; Brain Diseases; Catecholamines; Cerebrovascular Disorders; Dopamine; Dysautonomia, Familial; Dystonia Musculorum Deformans; Hepatic Encephalopathy; Homovanillic Acid; Humans; Huntington Disease; Levodopa; Movement Disorders; Multiple Sclerosis; Nervous System Diseases; Parkinson Disease; Phenylketonurias; Seizures; Spinal Cord Injuries; Torticollis; Tourette Syndrome	1975
Biogenic amines and affective disorders. A critical analysis. International pharmacopsychiatry, 1976, Volume: 11, Issue:3 Topics: 5-Hydroxytryptophan; Affective Symptoms; Antidepressive Agents, Tricyclic; Biogenic Amines; Bipolar Disorder; Brain Chemistry; Clinical Trials as Topic; Depression; Electroconvulsive Therapy; Fenclonine; Fusaric Acid; Humans; Levodopa; Lithium; Methyldopa; Methyltyrosines; Methysergide; Monoamine Oxidase Inhibitors; Phenylketonurias; Reserpine; Tryptophan	1976

Trials

6 trial(s) available for levodopa and BH4 Deficiency

Article	Year
Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency. Archives of neurology, 2008, Volume: 65, Issue:3 Topics: 5-Hydroxytryptophan; Adolescent; Adult; Asian People; Child; Child, Preschool; Female; Humans; Infant; Intelligence; Intelligence Tests; Levodopa; Longitudinal Studies; Male; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins; Retrospective Studies; Statistics, Nonparametric; Taiwan; Time Factors	2008
Atypical phenylketonuria due to biopterin deficiency. Early treatment with tetrahydrobiopterin and neurotransmitter precursors, trials of monotherapy. Helvetica paediatrica acta, 1982, Volume: 37, Issue:5 Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Clinical Trials as Topic; Humans; Infant; Levodopa; Male; Phenylketonurias; Pteridines	1982
Effect of L-dopa on pattern visual evoked potentials (P-100) and neuropsychological tests in untreated adult patients with phenylketonuria. Journal of inherited metabolic disease, 1994, Volume: 17, Issue:3 Topics: Adult; Evoked Potentials, Visual; Frontal Lobe; Humans; Levodopa; Neuropsychological Tests; Phenylalanine; Phenylketonurias	1994
Biogenic amines and affective disorders. A critical analysis. International pharmacopsychiatry, 1976, Volume: 11, Issue:3 Topics: 5-Hydroxytryptophan; Affective Symptoms; Antidepressive Agents, Tricyclic; Biogenic Amines; Bipolar Disorder; Brain Chemistry; Clinical Trials as Topic; Depression; Electroconvulsive Therapy; Fenclonine; Fusaric Acid; Humans; Levodopa; Lithium; Methyldopa; Methyltyrosines; Methysergide; Monoamine Oxidase Inhibitors; Phenylketonurias; Reserpine; Tryptophan	1976
[Nerve growth factor and the state of serotoninergic system in endogenous depression and mental retardation]. Vestnik Rossiiskoi akademii meditsinskikh nauk, 1992, Issue:8 Topics: Adolescent; Adult; Antidepressive Agents, Tricyclic; Blood Platelets; Child; Child, Preschool; Depressive Disorder; Female; Humans; Immunochemistry; In Vitro Techniques; Levodopa; Middle Aged; Nerve Growth Factors; Oxazines; Phenylketonurias; Platelet Aggregation; Receptors, Serotonin; Serotonin; Stimulation, Chemical	1992
Phenylalanine alters the mean power frequency of electroencephalograms and plasma L-dopa in treated patients with phenylketonuria. Pediatric research, 1986, Volume: 20, Issue:11 Topics: Adolescent; Analysis of Variance; Child; Double-Blind Method; Electroencephalography; Humans; Levodopa; Phenylalanine; Phenylketonurias; Regression Analysis	1986

Other Studies

45 other study(ies) available for levodopa and BH4 Deficiency

Article	Year
Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed. Archives of Razi Institute, 2023, Volume: 78, Issue:2 Topics: Child; Diet; Humans; Levodopa; Phenylalanine; Phenylketonurias; Serotonin	2023
Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia. Parkinsonism & related disorders, 2013, Volume: 19, Issue:12 Topics: Adolescent; Adult; Age of Onset; Asian People; Child; Child, Preschool; Dopamine Agents; Dyskinesias; Dystonic Disorders; Family; Female; GTP Cyclohydrolase; Humans; Infant; Levodopa; Male; Middle Aged; Mutation; Pedigree; Phenylketonurias; Young Adult	2013
Diagnosis, treatment and follow-up of patients with tetrahydrobiopterin deficiency in Shandong province, China. Brain & development, 2015, Volume: 37, Issue:6 Topics: 5-Hydroxytryptophan; Biopterins; Child, Preschool; China; Follow-Up Studies; Genotype; Humans; Infant; Infant, Newborn; Intelligence Tests; Levodopa; Mutation; Neopterin; Phenylalanine; Phenylketonurias; Treatment Outcome	2015
Short prolactin profile for monitoring treatment in BH4 deficiency. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2015, Volume: 19, Issue:3 Topics: Biomarkers; Humans; Levodopa; Male; Phenylketonurias; Prolactin	2015
Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia. Movement disorders : official journal of the Movement Disorder Society, 2011, Volume: 26, Issue:1 Topics: Antiparkinson Agents; Carbidopa; Child, Preschool; Deficiency Diseases; Drug Combinations; Female; Follow-Up Studies; GTP Cyclohydrolase; Humans; Infant; Levodopa; Male; Mutation; Neurotransmitter Agents; Phenylketonurias	2011
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. Neurology, 2012, Jan-31, Volume: 78, Issue:5 Topics: 5-Hydroxytryptophan; Alcohol Oxidoreductases; Behavior; Benserazide; Consanguinity; Developmental Disabilities; Dopamine Agents; Drug Combinations; Eye Movements; Female; Humans; Infant; Levodopa; Movement Disorders; Muscle Hypotonia; Nervous System Diseases; Neurotransmitter Agents; Phenylketonurias; Treatment Outcome	2012
Dopamine agonists in dihydropteridine reductase deficiency. Molecular genetics and metabolism, 2012, Volume: 105, Issue:4 Topics: Adult; Behavior; Benzothiazoles; Biopterins; Child; Dihydropteridine Reductase; Dopamine; Dopamine Agonists; Humans; Levodopa; Locomotion; Male; Phenylketonurias; Phosphorus-Oxygen Lyases; Pramipexole; Prolactin; Young Adult	2012
In vivo catecholaminergic metabolism in the medial prefrontal cortex of ENU2 mice: an investigation of the cortical dopamine deficit in phenylketonuria. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:6 Topics: Animals; Catecholamines; Disease Models, Animal; Dopamine; Levodopa; Male; Mice; Mice, Mutant Strains; Phenylalanine Hydroxylase; Phenylketonurias; Prefrontal Cortex; Synaptic Transmission; Tyrosine; Tyrosine 3-Monooxygenase	2012
Long-term follow-up of tetrahydrobiopterin therapy in patients with tetrahydrobiopterin deficiency in Japan. Brain & development, 2013, Volume: 35, Issue:5 Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Developmental Disabilities; Dopamine Agents; Drug Therapy, Combination; Female; Humans; Japan; Levodopa; Longitudinal Studies; Male; Phenylketonurias; Product Surveillance, Postmarketing; Retrospective Studies; Young Adult	2013
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia. Molecular genetics and metabolism, 2013, Volume: 108, Issue:3 Topics: Administration, Oral; Adult; Biopterins; Diagnosis, Differential; Dystonia; Dystonic Disorders; Female; Humans; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Psychomotor Disorders; Tyrosine	2013
Arg(184)His mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa-responsive dystonia with parkinsonism: a case report. Movement disorders : official journal of the Movement Disorder Society, 2004, Volume: 19, Issue:5 Topics: Antiparkinson Agents; Arginine; Brain; Dystonia; Genes, Recessive; GTP Cyclohydrolase; Humans; Levodopa; Magnetic Resonance Imaging; Male; Middle Aged; Parkinsonian Disorders; Pedigree; Phenylketonurias; Point Mutation; Tomography, Emission-Computed; Tomography, Emission-Computed, Single-Photon	2004
L-Dopa-responsive Parkinson's syndrome in association with phenylketonuria: In vivo dopamine transporter and D2 receptor findings. Movement disorders : official journal of the Movement Disorder Society, 2004, Volume: 19, Issue:10 Topics: Adult; Antiparkinson Agents; Benzamides; Brain; Dopamine Plasma Membrane Transport Proteins; Female; Humans; Iodine Radioisotopes; Levodopa; Membrane Glycoproteins; Membrane Transport Proteins; Nerve Tissue Proteins; Parkinson Disease; Phenylketonurias; Pyrrolidines; Radiopharmaceuticals; Receptors, Dopamine D2; Tomography, Emission-Computed, Single-Photon; Tropanes	2004
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: correlation with intelligence assessment. AJNR. American journal of neuroradiology, 2004, Volume: 25, Issue:9 Topics: 5-Hydroxytryptophan; Axons; Biopterins; Brain Damage, Chronic; Cerebral Cortex; Child; Child, Preschool; Combined Modality Therapy; Corpus Callosum; Diffusion Magnetic Resonance Imaging; Dominance, Cerebral; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Intelligence; Levodopa; Male; Neonatal Screening; Nerve Fibers, Myelinated; Phenylalanine; Phenylketonurias; Pregnancy	2004
6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia. Annals of neurology, 2005, Volume: 58, Issue:1 Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Cerebral Palsy; Child; Developmental Disabilities; Diagnostic Errors; Dopamine Agents; Female; Humans; Levodopa; Movement Disorders; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Seizures	2005
Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency. Movement disorders : official journal of the Movement Disorder Society, 2006, Volume: 21, Issue:2 Topics: Adolescent; Adult; Antiparkinson Agents; Athetosis; Child; Child, Preschool; Chorea; Dose-Response Relationship, Drug; Dystonia; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Levodopa; Long-Term Care; Muscle Hypotonia; Neurologic Examination; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins; Treatment Outcome	2006
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency. Molecular genetics and metabolism, 2006, Volume: 87, Issue:2 Topics: 5-Hydroxytryptophan; Adolescent; Adult; Asian People; Biopterins; Child; Child, Preschool; China; Female; Follow-Up Studies; Humans; Infant; Intellectual Disability; Levodopa; Male; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Seizures; Time Factors	2006
[Study on tetrahydrobiopterin deficiency in Northern Chinese population]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2006, Volume: 23, Issue:3 Topics: 5-Hydroxytryptophan; Asian People; Biopterins; Child, Preschool; China; Dihydropteridine Reductase; Humans; Infant; Levodopa; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases	2006
Dihydropteridine reductase deficiency: levodopa's long-term effectiveness without dyskinesia. Neurology, 2006, Dec-26, Volume: 67, Issue:12 Topics: 5-Hydroxytryptophan; Adult; Antidepressive Agents, Second-Generation; Dopamine Agents; Drug Combinations; Dyskinesia, Drug-Induced; Dyskinesias; Humans; Levodopa; Longitudinal Studies; Male; Phenylketonurias; Treatment Outcome	2006
Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients. Journal of inherited metabolic disease, 2008, Volume: 31 Suppl 2 Topics: 5-Hydroxytryptophan; Aromatic Amino Acid Decarboxylase Inhibitors; Biomarkers; Carbidopa; Child, Preschool; Dietary Proteins; Dihydropteridine Reductase; Dopa Decarboxylase; Dopamine Agents; Drug Monitoring; Drug Therapy, Combination; Enzyme Inhibitors; Genetic Predisposition to Disease; Humans; Infant; Infant, Newborn; Italy; Levodopa; Monoamine Oxidase Inhibitors; Mutation; Neonatal Screening; Neurologic Examination; Phenotype; Phenylketonurias; Prolactin; Selegiline; Time Factors; Treatment Outcome	2008
Catecholamines and congenital pain insensitivity. Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas, 1984, Volume: 17, Issue:3-4 Topics: Dopamine; Dysautonomia, Familial; Epinephrine; Hereditary Sensory and Autonomic Neuropathies; Humans; Lesch-Nyhan Syndrome; Levodopa; Norepinephrine; Pain Insensitivity, Congenital; Phenylketonurias; Skin; Tyrosine	1984
[Malignant phenylketonuria caused by biopterin synthetase deficiency. Study of neuromediator catabolites in the cerebrospinal fluid during treatment]. Archives francaises de pediatrie, 1984, Volume: 41, Issue:1 Topics: Alcohol Oxidoreductases; Biopterins; Carbidopa; Follow-Up Studies; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Levodopa; Male; Neurotransmitter Agents; Phenylketonurias; Serotonin	1984
Management of the extrapyramidal manifestations of phenylketonuria with L-dopa. Archives of disease in childhood, 1983, Volume: 58, Issue:6 Topics: Basal Ganglia Diseases; Female; Follow-Up Studies; Humans; Infant; Levodopa; Phenylketonurias	1983
[EEG sleep activity in a phenylketonuric child of the 'new variant' type, before and after treatment with 5-HTP and L-DOPA (author's transl)]. Revue d'electroencephalographie et de neurophysiologie clinique, 1981, Volume: 11, Issue:2 Topics: Electroencephalography; Follow-Up Studies; Genetic Variation; Humans; Infant; Levodopa; Male; Phenylketonurias; Serotonin; Sleep; Sleep Stages	1981
Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency. Journal of neurochemistry, 1995, Volume: 64, Issue:6 Topics: 5-Hydroxytryptophan; Biogenic Monoamines; Humans; Infant; Leucovorin; Levodopa; Male; Phenylketonurias	1995
Tetrahydrobiopterin deficiency and an international database of patients. Advances in experimental medicine and biology, 1993, Volume: 338 Topics: 5-Hydroxytryptophan; Alcohol Oxidoreductases; Biomarkers; Biopterins; Carbidopa; Child; Dihydropteridine Reductase; GTP Cyclohydrolase; Humans; Hydro-Lyases; Information Systems; Levodopa; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins; Registries	1993
Effect of L-dopa on visual evoked potentials and neuropsychological tests in adult phenylketonuria patients. European journal of pediatrics, 1996, Volume: 155 Suppl 1 Topics: Adult; Evoked Potentials, Somatosensory; Humans; Levodopa; Neuropsychological Tests; Phenylalanine; Phenylketonurias; Reaction Time; Treatment Outcome	1996
Hyperprolactinemia, a tool in treatment control of tetrahydrobiopterin deficiency: endocrine studies in an affected girl. Pediatric research, 1998, Volume: 43, Issue:4 Pt 1 Topics: Adolescent; Biopterins; Carbidopa; Delayed-Action Preparations; Drug Combinations; Female; Follicle Stimulating Hormone; Human Growth Hormone; Humans; Hydrocortisone; Hyperprolactinemia; Insulin; Levodopa; Luteinizing Hormone; Melatonin; Phenylketonurias; Phosphorus-Oxygen Lyases; Prolactin	1998
Dystonias responding to levodopa and failure in biopterin metabolism. Advances in neurology, 1998, Volume: 78 Topics: Biopterins; Child, Preschool; Dopamine Agents; Dystonia; Family Health; Female; GTP Cyclohydrolase; Humans; Infant; Levodopa; Male; Muscle, Skeletal; Mutation; Phenylketonurias; Phosphorus-Oxygen Lyases	1998
[Progressive convulsive encephalopathy: considering a abnormality of biopterin metabolism]. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 1999, Volume: 6, Issue:7 Topics: 5-Hydroxytryptophan; Algeria; Anticonvulsants; Biopterins; Brain; Child, Preschool; Consanguinity; Developmental Disabilities; Diet Therapy; Epilepsy; France; Humans; Levodopa; Magnetic Resonance Imaging; Male; Neopterin; Phenylalanine; Phenylketonurias	1999
[Treatment of phenylketonuria due to dihydropteridine reductase deficiency]. Harefuah, 2000, Volume: 139, Issue:7-8 Topics: Antiparkinson Agents; Humans; Infant, Newborn; Levodopa; Male; Organic Chemicals; Phenylketonurias	2000
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency. European journal of pediatrics, 2001, Volume: 160, Issue:5 Topics: Adolescent; Adult; Antioxidants; Biopterins; Carbidopa; Child; Child, Preschool; DNA Mutational Analysis; Dopamine Agents; Female; Follow-Up Studies; Genotype; Heterozygote; Homozygote; Humans; Infant; Infant, Newborn; Levodopa; Male; Mutation; Phenotype; Phenylketonurias; Phosphorus-Oxygen Lyases; Pterins; Reverse Transcriptase Polymerase Chain Reaction; Time Factors	2001
Tetrahydrobiopterin-deficient hyperphenylalaninemia in the Chinese. Clinica chimica acta; international journal of clinical chemistry, 2001, Volume: 313, Issue:1-2 Topics: 5-Hydroxytryptophan; Biopterins; Diagnosis, Differential; Dihydropteridine Reductase; Female; Genetic Carrier Screening; Humans; Incidence; Levodopa; Mass Screening; Mutation; Phenylketonurias; Phosphorus-Oxygen Lyases; Pregnancy; Prenatal Diagnosis; Taiwan; Treatment Outcome	2001
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations. Journal of inherited metabolic disease, 2001, Volume: 24, Issue:8 Topics: 5-Hydroxytryptophan; Base Sequence; Biopterins; DNA Mutational Analysis; Founder Effect; Humans; Infant, Newborn; Intelligence; Levodopa; Mutation; Neonatal Screening; Phenylalanine; Phenylketonurias; Phosphorus-Oxygen Lyases; Taiwan; Treatment Outcome	2001
Biogenic amine synthesis defect in dihydropteridine reductase deficiency. Science (New York, N.Y.), 1977, Nov-04, Volume: 198, Issue:4316 Topics: 5-Hydroxytryptophan; Biogenic Amines; Carbidopa; Dopamine; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Intellectual Disability; Levodopa; Male; NADH, NADPH Oxidoreductases; Neurotransmitter Agents; Phenylketonurias; Probenecid; Seizures; Serotonin; Tyrosine	1977
A disorder of biogenic amines in dihydropteridine reductase deficiency. Annals of neurology, 1978, Volume: 3, Issue:3 Topics: 5-Hydroxytryptophan; Biogenic Amines; Brain; Child, Preschool; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Levodopa; Liver; Male; Neurotransmitter Agents; Phenylalanine; Phenylketonurias; Vanilmandelic Acid	1978
Letter: L-dopa and 5-hydroxytryptophan therapy in phenylketonuria with normal phenylalanine-hydroxylase activity. Lancet (London, England), 1975, Nov-22, Volume: 2, Issue:7943 Topics: 5-Hydroxytryptophan; Carbidopa; Drug Therapy, Combination; Humans; Infant; Levodopa; Phenylalanine Hydroxylase; Phenylketonurias	1975
An abnormality in sebaceous function in phenylketonuria. British medical journal, 1975, Jan-04, Volume: 1, Issue:5948 Topics: Adolescent; Adult; Aged; Brain Chemistry; Dermatitis, Seborrheic; Dopamine; Female; Humans; Levodopa; Male; Middle Aged; Phenylketonurias; Sebaceous Glands; Sebum; Secretory Rate; Sex Factors	1975
[The activity of aminotransferases in serum and cerebrospinal fluid in neurological diseases (author's transl)]. Wiener klinische Wochenschrift, 1975, Dec-12, Volume: 87, Issue:23 Topics: Alanine Transaminase; Amyotrophic Lateral Sclerosis; Aspartate Aminotransferases; Craniocerebral Trauma; Friedreich Ataxia; Guanidines; Hepatolenticular Degeneration; Humans; Huntington Disease; Levodopa; Nervous System Diseases; Parkinson Disease; Penicillins; Phenylketonurias; Transaminases	1975
Atypical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro. Pediatrics, 1977, Volume: 59, Issue:5 Topics: 5-Hydroxytryptophan; Dihydropteridine Reductase; Humans; Infant, Newborn; Levodopa; Liver; Male; NADH, NADPH Oxidoreductases; Phenylalanine Hydroxylase; Phenylketonurias	1977
Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia. Pediatrics, 1979, Volume: 63, Issue:1 Topics: 5-Hydroxytryptophan; Ascorbic Acid; Consanguinity; Dopamine; Humans; Infant; Levodopa; Liver; Male; NADH, NADPH Oxidoreductases; Nervous System Diseases; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Serotonin	1979
Successful treatment of dihydropteridine reductase deficiency, with an interesting effect of 5-hydroxytryptophan deficiency on sleep patterns. Journal of inherited metabolic disease, 1991, Volume: 14, Issue:1 Topics: 5-Hydroxytryptophan; Female; Humans; Levodopa; Male; Phenylketonurias; Pregnancy; Prenatal Diagnosis; Sleep	1991
L-3,4-dihydroxyphenylalanine (levodopa) lowers central nervous system S-adenosylmethionine concentrations in humans. Journal of neurology, neurosurgery, and psychiatry, 1990, Volume: 53, Issue:7 Topics: Adolescent; Akinetic Mutism; Biopterins; Child, Preschool; Humans; Infant; Levodopa; Methionine; NADH, NADPH Oxidoreductases; Phenylketonurias; Pyridoxine; S-Adenosylmethionine; Tetrahydrofolates; Tyrosine	1990
Neurotransmitter therapy and diet in malignant phenylketonuria. European journal of pediatrics, 1987, Volume: 146, Issue:1 Topics: 5-Hydroxytryptophan; Carbidopa; Combined Modality Therapy; Female; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Infant, Newborn; Levodopa; Phenylalanine; Phenylketonurias	1987
Folinic acid therapy in treatment of dihydropteridine reductase deficiency. The Journal of pediatrics, 1987, Volume: 110, Issue:1 Topics: 5-Hydroxytryptophan; Brain; Carbidopa; Drug Therapy, Combination; Female; Folic Acid; Humans; Infant; Infant, Newborn; Leucovorin; Levodopa; Male; NADH, NADPH Oxidoreductases; Neurotransmitter Agents; Phenylketonurias	1987
Malignant phenylketonuria due to defective synthesis of dihydrobiopterin. Israel journal of medical sciences, 1985, Volume: 21, Issue:6 Topics: 5-Hydroxytryptophan; Biopterins; Carbidopa; Drug Combinations; Female; Humans; Infant, Newborn; Levodopa; Male; Nervous System Diseases; Phenylalanine; Phenylketonurias; Pteridines; Tyrosine	1985