phenylalanine has been researched along with BCKD Deficiency in 48 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 33 (68.75) | 18.7374 |
| 1990's | 8 (16.67) | 18.2507 |
| 2000's | 6 (12.50) | 29.6817 |
| 2010's | 1 (2.08) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Darvish, M; Ebrahimi, SA; Ghadam, P | 1 |
| Hong, SP; Jeong, JS; Kwon, HJ; Lee, YM; Sim, HJ; Yoon, HR | 1 |
| Deng, C; Deng, Y | 1 |
| TASHIAN, RE | 1 |
| Ball, RO; Clarke, JT; Pencharz, PB; Rafii, M; Riazi, R; Wykes, LJ | 1 |
| Bhattacharya, K; Carpenter, K; Khalili, V; Wilcken, B; Wiley, V | 1 |
| Bürger, C; de Souza Wyse, AT; Dutra-Filho, CS; Wajner, A; Wajner, M; Wannmacher, CM | 1 |
| Moser, HW; Prensky, AL | 1 |
| Halvorsen, S; Kindt, E | 1 |
| Aoki, K; Arashima, S; Kawamura, M; Kitagawa, T; Oura, T; Sakai, K; Suwa, S; Tada, K; Takesada, M; Tateda, H | 1 |
| Meister, A; Wellner, D | 1 |
| Bachmann, C; Colombo, JP | 1 |
| Mamunes, P | 1 |
| Kerr, D; Ruch, T | 1 |
| Chace, DH; Hillman, SL; Kahler, SG; Millington, DS; Naylor, EW; Roe, CR | 1 |
| Aoki, K | 1 |
| Bellisario, R; Pass, KA; Reilly, AA | 1 |
| Baab, PJ; Collins, RM; Zielke, CL; Zielke, HR | 1 |
| Bickel, H | 2 |
| Kiss, P; Kovács, J | 1 |
| Brady, RO | 1 |
| Omenn, GS | 1 |
| Cockburn, F; Darling, JA; Giles, MM; Grant, M; Harkness, RA; Turner, TL | 1 |
| Clark, JB; Land, JM; Mowbray, J | 1 |
| Miller, JB; Qu, Y; Shapira, E; Slocum, RH | 1 |
| Chuang, DT; Cox, RP; Fisher, CR; Fisher, CW; Lau, KS; Wynn, RM | 1 |
| Bonnefont, JP; Bresson, JL; Halliday, D; Leonard, JV; Pacy, PJ; Saudubray, JM; Thompson, GN; Walter, JH | 1 |
| Halliday, D; Leonard, JV; Thompson, GN; Walter, JH | 1 |
| Guthrie, R; Jinks, DC; Vollmer, DW | 1 |
| Reavey, PC; Yadav, GC | 1 |
| Horn, L; Jellum, E; Kvittingen, EA; Stokke, O; Thoresen, O | 1 |
| Roth, KS | 1 |
| Lothaller, H; Rett, A; Zimprich, H | 1 |
| Royer, P | 1 |
| Levy, HL | 3 |
| Frézal, J | 1 |
| Machill, G | 1 |
| Halvorsen, S; Skjelkvåle, L | 1 |
| Balda, BR; Lukacs, I | 1 |
| Allen, RJ; Fleming, LM; Frey, HJ; Owings, CL | 1 |
| Rey, F; Rey, J; Sivy, M | 1 |
| Smith, BA; Waisman, HA | 1 |
| Carpenter, DG; Carter, CH | 1 |
| Hagge, W; Irtel von Brenndorff, A | 1 |
7 review(s) available for phenylalanine and BCKD Deficiency
| Article | Year |
|---|---|
A survey of inborn errors of amino acid metabolism and transport in man.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport; Cystinosis; Female; Glutathione; Glycine; Homocystinuria; Humans; Hydroxyproline; Infant; Infant, Newborn; Lysine; Maple Syrup Urine Disease; Phenylalanine; Proline; Serine; Tyrosine; Urea; Valine | 1981 |
Neonatal screening tests.
Topics: Adenosine Deaminase; Anemia, Sickle Cell; Biological Assay; Costs and Cost Analysis; Galactosemias; Histidine; Homocystinuria; Humans; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Tyrosine; United States | 1980 |
[Disorders of amino acids].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Histidine; Homocystine; Humans; Infant; Japan; Male; Maple Syrup Urine Disease; Phenylalanine; Reference Standards | 1993 |
Inborn errors of metabolism: clues to understanding human behavioral disorders.
Topics: Adrenal Hyperplasia, Congenital; Brain; Galactosemias; Glycine; Hepatolenticular Degeneration; Heterozygote; Homocystinuria; Humans; Lesch-Nyhan Syndrome; Maple Syrup Urine Disease; Mental Disorders; Metabolism, Inborn Errors; Mucopolysaccharidoses; Phenylalanine; Phenylketonurias; Porphyrias; Sphingolipidoses; Turner Syndrome; Urea | 1976 |
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 |
Neonatal screening for inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Chromatography, Paper; Evaluation Studies as Topic; Female; Hartnup Disease; Histidine; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Mass Screening; Methionine; Methods; Phenylalanine; Phenylketonurias; Pregnancy; Tyrosine | 1974 |
[Molecular biologic aspects in dermatology demonstrated by some hereditary enzyme defects].
Topics: Albinism; Alkaptonuria; Anemia, Sickle Cell; Chromosomes; Hartnup Disease; Humans; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Models, Chemical; Molecular Biology; Phenylalanine; Phenylketonurias; Porphyrias; Skin Diseases; Tyrosine | 1968 |
1 trial(s) available for phenylalanine and BCKD Deficiency
| Article | Year |
|---|---|
Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-13C]phenylalanine.
Topics: Adolescent; Adult; Amino Acids, Branched-Chain; Amino Acids, Essential; Energy Metabolism; Female; Humans; Male; Maple Syrup Urine Disease; Metabolic Clearance Rate; Nutritional Requirements; Oxidation-Reduction; Phenylalanine; Radioisotope Dilution Technique | 2004 |
40 other study(ies) available for phenylalanine and BCKD Deficiency
| Article | Year |
|---|---|
Development of micellar electro kinetic chromatography for the separation and quantitation of L-valine, L-leucine, L-isoleucin and L-phenylalanine in human plasma and comparison with HPLC.
Topics: Chromatography, High Pressure Liquid; Chromatography, Micellar Electrokinetic Capillary; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Plasma; Reproducibility of Results; Valine | 2007 |
Chromatographic diagnosis of maple syrup urine disease by measuring the L-alloisoleucine/L-phenylalanine ratio in dried blood spots.
Topics: Adult; Blood Specimen Collection; Chromatography, High Pressure Liquid; Humans; Infant, Newborn; Isoleucine; Male; Maple Syrup Urine Disease; Phenylalanine; Reproducibility of Results; Sensitivity and Specificity | 2011 |
Diagnosis of maple syrup urine disease by determination of L-valine, L-isoleucine, L-leucine and L-phenylalanine in neonatal blood spots by gas chromatography-mass spectrometry.
Topics: Gas Chromatography-Mass Spectrometry; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Phenylalanine; Reproducibility of Results; Valine | 2003 |
Inhibition of brain glutamic acid decarboxylase by phenylalanine, valine, and leucine derivatives: a suggestion concerning the etiology of the neurological defect in phenylketonuria and branched-chain ketonuria.
Topics: Amino Acids; Brain; Glutamate Decarboxylase; Humans; Intellectual Disability; Ketosis; Leucine; Lyases; Maple Syrup Urine Disease; Metabolic Diseases; Phenylalanine; Phenylketonurias; Valine | 1961 |
Newborn screening may fail to identify intermediate forms of maple syrup urine disease.
Topics: Alanine; False Negative Reactions; Female; Humans; Infant, Newborn; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Neonatal Screening; Phenylalanine; Tandem Mass Spectrometry | 2006 |
Synaptic plasma membrane Na(+), K (+)-ATPase activity is significantly reduced by the alpha-keto acids accumulating in maple syrup urine disease in rat cerebral cortex.
Topics: Alanine; Animals; Cell Membrane; Cerebral Cortex; Enzyme Activation; Hemiterpenes; Keto Acids; Maple Syrup Urine Disease; Phenylalanine; Rats; Rats, Wistar; Sodium-Potassium-Exchanging ATPase; Synapses | 2007 |
Changes in the amino acid composition of proteolipids of white matter during maturation of the human nervous system.
Topics: Adult; Aged; Amino Acids; Aspartic Acid; Central Nervous System; Child; Frontal Lobe; Humans; Infant; Infant, Newborn; Leucine; Lipoproteins; Maple Syrup Urine Disease; Phenylalanine; Proline; Tyrosine | 1967 |
The need of essential amino acids in children. An evaluation based on the intake of phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino transferase defect, and maple syrup urine disease.
Topics: Amino Acids, Essential; Child; Child, Preschool; Dietary Proteins; Female; Humans; Isoleucine; Leucine; Male; Maple Syrup Urine Disease; Nutritional Requirements; Phenylalanine; Phenylketonurias; Protein Biosynthesis; Tyrosine; Tyrosine Transaminase; Valine | 1980 |
Follow-up study of a nation-wide neonatal metabolic screening program in Japan. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan.
Topics: Biopterins; Female; Follow-Up Studies; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Intelligence; Japan; Male; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1984 |
Incidence of disorders tested by systematic screening: confidence limits and comparison of programmes.
Topics: Epidemiologic Methods; Humans; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Statistics as Topic; Switzerland | 1982 |
Decreased essential amino acid requirements without catabolism in phenylketonuria and maple syrup urine disease.
Topics: Amino Acids; Child, Preschool; Dietary Proteins; Dihydropteridine Reductase; Female; Humans; Infant; Infant, Newborn; Leucine; Male; Maple Syrup Urine Disease; Milk, Human; Nutritional Requirements; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1982 |
Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry.
Topics: False Positive Reactions; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Mass Spectrometry; Neonatal Screening; Paper; Phenylalanine; Reference Values; Sensitivity and Specificity; Valine | 1995 |
Multivariate discrimination for phenylketonuria (PKU) and non-PKU hyperphenylalaninemia after analysis of newborns' dried blood-spot specimens for six amino acids by ion-exchange chromatography.
Topics: Amino Acids; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; False Positive Reactions; Genetic Testing; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Multivariate Analysis; New York; Phenylalanine; Phenylketonurias; Tyrosine | 1998 |
Large neutral amino acids auto exchange when infused by microdialysis into the rat brain: implication for maple syrup urine disease and phenylketonuria.
Topics: Amino Acid Transport Systems, Neutral; Amino Acids, Cyclic; Amino Acids, Neutral; Animals; Binding, Competitive; Biological Transport; Blood-Brain Barrier; Brain; Extracellular Space; Hippocampus; Keto Acids; Leucine; Maple Syrup Urine Disease; Microdialysis; Models, Biological; Nerve Tissue Proteins; Neurons; Phenylalanine; Phenylketonurias; Rats; Tyrosine | 2002 |
Dietary restriction in inborn errors of amino acid metabolism.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis; Food, Formulated; Histidine; Homocystinuria; Humans; Infant; Infant Food; Infant, Newborn; Intelligence; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Tyrosine | 1979 |
Mild variant of maple syrup urine disease.
Topics: Amino Acids; Child, Preschool; Chromatography, Ion Exchange; Chromatography, Thin Layer; Dietary Proteins; Humans; Male; Maple Syrup Urine Disease; Phenylalanine | 1978 |
Inherited metabolic diseases of the nervous system.
Topics: Amino Acid Metabolism, Inborn Errors; Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors; Gangliosidoses; Glutathione; Glycine; Glycogen Storage Disease Type II; Humans; Intellectual Disability; Lipid Metabolism, Inborn Errors; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Mucopolysaccharidoses; Nerve Tissue Proteins; Nervous System Diseases; Phenylalanine; Phenylketonurias | 1976 |
A new variety of maple syrup urine disease.
Topics: Amino Acids; Amniocentesis; Biological Transport; Carboxy-Lyases; Erythrocytes; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Phenylalanine | 1977 |
American Academy of Pediatrics. Committee on Nutrition: special diets for infants with inborn errors of amino acid metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cysteine; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Nutritional Requirements; Phenylalanine; Phenylketonurias; Risk; Tyrosine; Valine | 1976 |
Control of pyruvate and beta-hydroxybutyrate utilization in rat brain mitochondria and its relevance to phenylketonuria and maple syrup urine disease.
Topics: Age Factors; Animals; Brain; Humans; Hydroxybutyrates; Male; Maple Syrup Urine Disease; Mitochondria; Phenylalanine; Phenylketonurias; Phenylpyruvic Acids; Pyruvates; Rats | 1976 |
Rapid automated quantitation of isoleucine, leucine, tyrosine and phenylalanine from dried blood filter paper specimens.
Topics: Amino Acid Metabolism, Inborn Errors; Autoanalysis; Chromatography, High Pressure Liquid; Humans; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Neonatal Screening; Paper; Phenylalanine; Phenylketonurias; Tyrosine | 1991 |
A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.
Topics: Acyltransferases; Antisense Elements (Genetics); Base Composition; Base Sequence; Cell Line; Cysteine; DNA Transposable Elements; Exons; Fibroblasts; Humans; Maple Syrup Urine Disease; Molecular Sequence Data; Mutation; Phenylalanine; Polymerase Chain Reaction; Reference Values; Thiamine | 1991 |
Protein and leucine metabolism in maple syrup urine disease.
Topics: Child; Dietary Proteins; Female; Humans; Kinetics; Leucine; Male; Maple Syrup Urine Disease; Phenylalanine; Proteins; Radioisotope Dilution Technique; Reference Values; Time Factors; Tritium | 1990 |
In vivo enzyme activity in inborn errors of metabolism.
Topics: Adult; Bicarbonates; Carbon Isotopes; Child; Child, Preschool; Deuterium; Female; Humans; Hydroxylation; Isotope Labeling; Leucine; Male; Malonates; Maple Syrup Urine Disease; Metabolism, Inborn Errors; Methylmalonic Acid; Oxidation-Reduction; Phenylalanine; Phenylketonurias; Propionates; Radioisotope Dilution Technique; Reference Values; Tyrosine | 1990 |
Isocratic reverse-phase liquid chromatography assay for amino acid metabolic disorders using eluates of dried blood spots.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Calibration; Chromatography, Liquid; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Reference Values | 1990 |
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Citrulline; Cystinuria; Female; Glycine; Homocystinuria; Humans; Infant; Infant, Newborn; Kuwait; Male; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Proline; Tyrosine | 1988 |
Urinary excretion of N-acetyl amino acids in patients with some inborn errors of amino acid metabolism.
Topics: Acetylation; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Gas Chromatography-Mass Spectrometry; Humans; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias; Tyrosine | 1986 |
Newborn metabolic screening: a search for "nature's experiments".
Topics: Biopterins; Galactosemias; Homocystinuria; Humans; Infant, Newborn; Keto Acids; Maple Syrup Urine Disease; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Thiamine; Time Factors; United States | 1986 |
Differential diagnosis and treatment of hyperphenylalaninaemia.
Topics: Acid-Base Equilibrium; Amino Acids; Biopterins; Diagnosis, Differential; Galactosemias; Humans; Hydrogen-Ion Concentration; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylalanine; Phenylketonurias | 1985 |
[Examination technics in metabolic brain damage with special reference to thin-layer chromatography].
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain Damage, Chronic; Child; Chromatography, Thin Layer; Down Syndrome; Female; Humans; Infant; Male; Maple Syrup Urine Disease; Mass Screening; Methods; Phenylalanine; Phenylketonurias | 1971 |
[Dietetics in hereditary enzyme deficiencies].
Topics: Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Diarrhea, Infantile; Diet Therapy; Galactosemias; Homocystinuria; Humans; Infant Nutritional Physiological Phenomena; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1970 |
Medical physiopathology, enzymology and diagnosis.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Homocystinuria; Humans; Intellectual Disability; Maple Syrup Urine Disease; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias; Pteridines; Tetrahydrofolate Dehydrogenase | 1972 |
[Results of screening studies for phenylketonuria, maple syrup disease and homocystinuria using Guthrie's test].
Topics: Germany, East; Homocystinuria; Humans; Infant, Newborn; Leucine; Maple Syrup Urine Disease; Mass Screening; Methionine; Methods; Phenylalanine; Phenylketonurias | 1973 |
Genetic screening: notes added in proof.
Topics: Amino Acid Metabolism, Inborn Errors; Arginine; Cystathionine; Galactosemias; Genetics, Population; Histidine; Humans; Infant; Infant, Newborn; Maple Syrup Urine Disease; Mass Screening; Phenylalanine; Phenylketonurias; Succinates | 1973 |
[A screening test for phenylketonuria using a paper chromatography method].
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Paper; Homocystinuria; Humans; Infant, Newborn; Maple Syrup Urine Disease; Phenylalanine; Phenylketonurias | 1974 |
Semiquantitation of leucine, isoleucine, and valine by thin-layer chromatography in management of maple-syrup urine diseases.
Topics: Amniotic Fluid; Ascitic Fluid; Chromatography, Ion Exchange; Chromatography, Thin Layer; Diet Therapy; Evaluation Studies as Topic; Female; Humans; Infant; Infant, Newborn; Isoleucine; Leucine; Maple Syrup Urine Disease; Methods; Peritoneal Dialysis; Phenylalanine; Pregnancy; Valine | 1972 |
[Rapid separation of aromatic and ramified amino acids by chromatography on ion exchange columns. Application to the surveillance of leucinosis and hyperphenylalaninemia].
Topics: Amino Acids; Chromatography, Ion Exchange; Humans; Isoleucine; Leucine; Maple Syrup Urine Disease; Methionine; Methods; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1972 |
Leucine equivalency system in managing branched chain ketoaciduria.
Topics: Amino Acids; Chemical Phenomena; Chemistry; Diet; Diet Therapy; Female; Food Analysis; Growth; Humans; Infant Food; Infant, Newborn; Infant, Newborn, Diseases; Isoleucine; Keto Acids; Leucine; Maple Syrup Urine Disease; Methods; Phenylalanine; Time Factors; Valine | 1971 |
Inborn errors of metabolism associated with unusual odors.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Fatty Acids; Female; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Malabsorption Syndromes; Maple Syrup Urine Disease; Methionine; Odorants; Phenylalanine; Tryptophan; Valerates | 1970 |
[Experiences with a new amino acid analyzer for a rapid analysis].
Topics: Amino Acids; Autoanalysis; Homocystine; Homocystinuria; Humans; Infant, Newborn; Infant, Premature, Diseases; Isoleucine; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Methionine; Phenylalanine; Phenylketonurias; Tyrosine; Valine | 1970 |