lysine has been researched along with BH4 Deficiency in 32 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 26 (81.25) | 18.7374 |
| 1990's | 2 (6.25) | 18.2507 |
| 2000's | 3 (9.38) | 29.6817 |
| 2010's | 1 (3.13) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Desviat, LR; Djordjevic, M; Klaassen, K; Pavlovic, S; Perez, B; Skakic, A; Stojiljkovic, M | 1 |
| Ball, RO; Bross, R; Clarke, JT; Courtney-Martin, G; Pencharz, PB; Raffi, M | 1 |
| Bhatia, G; Grady, J; Grechanina, E; Guttler, F; Matalon, R; McDonald, JD; Michals-Matalon, K; Novikov, P; Tyring, SK | 1 |
| Ball, NA; Cook, NJ; Smythe, PJ; Veall, RM; Walker, V; Whiteman, P | 1 |
| Becker, K | 1 |
| Eller, AG; Hommes, FA; Taylor, EH | 1 |
| Ball, RO; Bross, R; Clarke, JT; Pencharz, PB | 1 |
| Antonas, KN; Coulson, WF | 1 |
| Broquist, HP | 1 |
| Greco, GM; Magli, A | 1 |
| al Awadi, SA; Bastaki, L; el Khalifa, MY; Farag, TI; Kasrawi, B; Marafie, MJ; Sam, T; Wahba, RA; Yadav, G | 1 |
| Eisensmith, RC; Güttler, F; Okano, Y; Wang, T; Woo, SL | 1 |
| Huether, G | 1 |
| Huether, G; Kaus, R; Neuhoff, V | 1 |
| Holmgren, G | 1 |
| Coffey, VP; Martin, MC; Moore, PT | 1 |
| Behbehani, AW; Neuhoff, V; Quentin, CD; Schulte, FJ | 1 |
| Ampola, MG | 1 |
| Levy, HL | 1 |
| Tomaszewski, L | 1 |
| Maties, M; Mayor, F; Ugarte, M; Valdivieso, F | 1 |
| Oldendorf, WH | 1 |
| Kovács, J | 1 |
| Homolka, J; Hyánek, J | 1 |
| Ampola, MG; Efron, ML | 1 |
| Alpers, DH; Thier, SO | 1 |
| Menne, F | 1 |
| Brown, DA; Turner, B | 1 |
| Lavinha, F; Lowenthal, A; Mardens, Y; Van Regemorter, N; Van Sande, M | 1 |
| Steuer, W | 1 |
| Antener, I | 1 |
| Bunting, R; Diamond, S; Hansen, S; Perry, TL; Tischler, B; Weppler, VC | 1 |
7 review(s) available for lysine and BH4 Deficiency
| Article | Year |
|---|---|
Amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport, Active; Carnitine; Corynebacterium; Glutamates; Humans; Keto Acids; Lysine; Methionine; Methylmalonic Acid; Neurospora crassa; Phenylketonurias; Plants; Protein Biosynthesis; Protein O-Methyltransferase; Taurine; Vitamin B Complex | 1976 |
[Eye manifestations of amino acid disorders].
Topics: Alanine; Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Cystinuria; Eye Diseases; Eye Manifestations; Glycine; Hartnup Disease; Hepatolenticular Degeneration; Homocystinuria; Humans; Lysine; Oculocerebrorenal Syndrome; Oxidoreductases; Phenylketonurias; Proline; Pyruvates | 1978 |
Phenylketonuria and other disorders of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Child, Preschool; Counseling; Cystathionine; Cystinosis; Cystinuria; Diet Therapy; Dietary Proteins; Family; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias; Pregnancy; Proline; Tyrosine | 1973 |
Genetic screening.
Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Erythrocytes; Fanconi Syndrome; Galactosemias; Genetics, Population; Glucosephosphate Dehydrogenase; Glycine; Hartnup Disease; Heterozygote; Histidine; Homocystine; Humans; Lysine; Maple Syrup Urine Disease; Mass Screening; Methods; Ornithine; Phenylalanine; Phenylketonurias; Succinates; Tyrosine | 1973 |
The aminoacidurias.
Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Tyrosine | 1967 |
Disorders of intestinal transport of amino acids.
Topics: Amino Acids; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Fructose; Galactosemias; Genes, Recessive; Glycine; Hartnup Disease; Humans; Intestinal Absorption; Lysine; Methionine; Phenylketonurias; Proline; Renal Tubular Transport, Inborn Errors; Tryptophan | 1969 |
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Hydroxyproline; Intellectual Disability; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Proline; Sarcosine; Succinates; Transferases; Tryptophan; Valine | 1968 |
1 trial(s) available for lysine and BH4 Deficiency
| Article | Year |
|---|---|
Phenylalanine requirement in children with classical PKU determined by indicator amino acid oxidation.
Topics: Adolescent; Body Composition; Breath Tests; Carbon Dioxide; Carbon Isotopes; Child; Fasting; Female; Food, Formulated; Growth; Humans; Linear Models; Lysine; Male; Nutritional Requirements; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Pulmonary Gas Exchange | 2002 |
24 other study(ies) available for lysine and BH4 Deficiency
| Article | Year |
|---|---|
Functional Characterization of Novel Phenylalanine Hydroxylase p.Gln226Lys Mutation Revealed Its Non-responsiveness to Tetrahydrobiopterin Treatment in Hepatoma Cellular Model.
Topics: Biopterins; Cell Line, Tumor; Glutamine; Humans; Lysine; Models, Biological; Models, Molecular; Phenylalanine Hydroxylase; Phenylketonurias; Point Mutation; Protein Structure, Tertiary; Sequence Analysis, DNA | 2018 |
Large neutral amino acids in the treatment of phenylketonuria (PKU).
Topics: Adolescent; Adult; Amino Acids, Neutral; Animals; Brain; Diet; Double-Blind Method; Female; Humans; Lysine; Male; Mice; Phenylalanine; Phenylketonurias; Placebos | 2006 |
Urinary screening for abnormalities of amino acid or mucopolysaccharide metabolism in patients in a hospital for the mentally handicapped in Wessex.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystinuria; Electrophoresis, Cellulose Acetate; England; Female; Glycine; Glycosaminoglycans; Humans; Intellectual Disability; Lysine; Male; Middle Aged; Phenylketonurias | 1983 |
[Phaenotypic aspects of hereditary aminoacidopathies (author's transl)].
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis; Germany, West; Homocystinuria; Humans; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Mass Screening; Phenotype; Phenylketonurias; Time Factors; Tyrosine | 1981 |
Turnover of the fast components of myelin and myelin proteins in experimental hyperphenylalaninaemia. Relevance to termination of dietary treatment in human phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Half-Life; Humans; Lysine; Myelin Proteins; Myelin Sheath; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains | 1982 |
Tyrosine requirements in children with classical PKU determined by indicator amino acid oxidation.
Topics: Breath Tests; Carbon Dioxide; Carbon Isotopes; Child; Diet; Female; Humans; Hydroxylation; Lysine; Male; Nutritional Requirements; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Tyrosine | 2000 |
Brain uptake and protein incorporation of amino acids studied in rats subjected to prolonged hyperphenylalaninaemia.
Topics: Amino Acids; Animals; Brain; Disease Models, Animal; Female; Fenclonine; Glycine; Humans; Leucine; Lysine; Male; Nerve Tissue Proteins; Phenylalanine; Phenylketonurias; Rats | 1975 |
Aminoacidopathies among institutionalised mentally retarded in Kuwait.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Female; Homocystinuria; Humans; Intellectual Disability; Kuwait; Lysine; Male; Phenylketonurias | 1992 |
Recurrent mutation in the human phenylalanine hydroxylase gene.
Topics: Alleles; Base Sequence; DNA; Female; Genes; Genetic Carrier Screening; Glutamates; Glutamic Acid; Haplotypes; Humans; Leukocytes; Lysine; Male; Molecular Sequence Data; Mutation; Oligonucleotide Probes; Pedigree; Phenylalanine Hydroxylase; Phenylketonurias; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Restriction Mapping | 1990 |
The depletion of tryptophan and serotonin in the brain of developing hyperphenylalaninemic rats is abolished by the additional administration of lysine.
Topics: Animals; Brain Chemistry; Hydroxyindoleacetic Acid; Lysine; Male; Phenylalanine; Phenylketonurias; Rats; Rats, Inbred Strains; Serotonin; Tryptophan | 1986 |
Amino acid depletion in the blood and brain tissue of hyperphenylalaninemic rats is abolished by the administration of additional lysine: a contribution to the understanding of the metabolic defects in phenylketonuria.
Topics: Age Factors; Amino Acids; Animals; Brain Chemistry; Humans; Lysine; Organ Size; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Rats; Rats, Inbred Strains | 1985 |
Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden.
Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acids; Child; Eye Diseases; Female; Glycine; Glycosaminoglycans; Histidine; Homocystinuria; Humans; Intellectual Disability; Lysine; Male; Mass Screening; Phenylketonurias; Renal Aminoacidurias; Sweden; Syndrome | 1973 |
Screening for biochemical abnormalities in the urine of the mentally handicapped in Dublin.
Topics: Adolescent; Adult; Amino Acids; Arginine; Child; Child, Preschool; Chromatography, Paper; Cystinuria; Female; Glycine; Glycosaminoglycans; Glycosuria; Homocystinuria; Hospitals, Psychiatric; Humans; Indoles; Infant; Intellectual Disability; Ireland; Lysine; Male; Metabolism, Inborn Errors; Phenylketonurias; Polysaccharides; Proteinuria; Succinates | 1972 |
Microanalysis with 14C-dansyl chloride of amino acids and amines in the cerebrospinal fluid of patients with phenylketonuria. I. Analysis in untreated phenylketonuria.
Topics: 5-Hydroxytryptophan; Amines; Amino Acids; Autoradiography; Carbon Radioisotopes; Chlorides; Chromatography; Dansyl Compounds; Diet Therapy; Glycine; Histidine; Humans; Infant; Lysine; Male; Methods; Microchemistry; Phenylketonurias; Proline; Serotonin; Time Factors | 1974 |
[The inborn errors of metabolism of amino acids].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chemical Phenomena; Chemistry; Cystinuria; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; Lysine; Maple Syrup Urine Disease; Methionine; Phenylketonurias; Sarcosine; Tyrosine; Valine | 1973 |
Increased free phenylalanine in the milk of a phenylketonuric mother.
Topics: Autoanalysis; Female; Humans; Lysine; Methods; Milk, Human; Phenylalanine; Phenylketonurias | 1973 |
Saturation of blood brain barrier transport of amino acids in phenylketonuria.
Topics: Amino Acids; Animals; Arginine; Blood-Brain Barrier; Brain; Carbon Isotopes; Dihydroxyphenylalanine; Female; Histidine; Humans; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Methionine; Ornithine; Phenylalanine; Phenylketonurias; Rats; Threonine; Tryptophan; Tyrosine; Valine | 1973 |
Ion-exchange thin-layer chromatographic screening test for phenylketonuria and other aminoacidaemias.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Ion Exchange; Chromatography, Thin Layer; Histidine; Humans; Infant; Lysine; Male; Mass Screening; Methods; Phenylalanine; Phenylketonurias; Tyrosine | 1973 |
The results of chromatographic screening for the detection of inborn metabolic errors in normal and mentally retarded population.
Topics: Adolescent; Adult; Amino Acids, Sulfur; Child; Child, Preschool; Chromatography; Cystinuria; Humans; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Intelligence Tests; Lysine; Metabolism, Inborn Errors; Phenylketonurias | 1973 |
Amino acid excretion in infancy and early childhood. A survey of 200,000 infants.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Cystathionine; Cystinuria; Glycine; Histidine; Humans; Infant; Lysine; Mass Screening; Phenylketonurias; Proline | 1972 |
[Distribution of two peptides of -aminobutyric acid in human brain and CSF].
Topics: Adolescent; Adult; Aged; Aging; Aminobutyrates; Brain Chemistry; Cerebral Cortex; Child; Child, Preschool; Chromatography, Ion Exchange; Dipeptides; Histidine; Humans; Infant; Lysine; Middle Aged; Parkinson Disease; Phenylketonurias | 1972 |
[Early diagnosis of congenital metabolic diseases].
Topics: Diet Therapy; Galactosemias; Histidine; Homocystinuria; Humans; Hyperglycemia; Infant, Newborn; Leucine; Lipoproteins; Lysine; Metabolism, Inborn Errors; Phenylketonurias; Time Factors; Valine | 1971 |
[Biochemical studies on inherited disorders of amino acid metabolism in pediatrics].
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Chemistry, Clinical; Child; Child, Preschool; Chromatography, Paper; Cystine; Cystinosis; Cystinuria; Electrophoresis; Fanconi Syndrome; Feces; Histidine; Humans; Keto Acids; Lysine; Maple Syrup Urine Disease; Ornithine; Phenylketonurias | 1970 |
Unrecognized maternal biochemical disease: an uncommon cause of mental retardation in children.
Topics: Child; Cystinuria; Female; Glycine; Humans; Infant, Newborn; Intellectual Disability; Lysine; Metabolic Diseases; Phenylalanine; Phenylketonurias; Pregnancy; Proline; Tyrosine | 1970 |