phenylalanine has been researched along with CBS Deficiency in 30 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 27 (90.00) | 18.7374 |
| 1990's | 2 (6.67) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (3.33) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Barić, I; Bártl, J; Baumgartner, MR; Ben-Omran, T; Blasco-Alonso, J; Blom, HJ; Bueno Delgado, MA; Carducci, C; Cassanello, M; Cerone, R; Chrastina, P; Couce, ML; Crushell, E; Delgado Pecellin, C; Dionisi-Vici, C; Dulin, E; Espada, M; Ferino, G; Fingerhut, R; Garcia Jimenez, I; Gleich, F; Gonzalez Gallego, I; González-Irazabal, Y; Gouveia, S; Gramer, G; Huemer, M; Juan Fita, MJ; Karg, E; Keller, R; Klein, J; Kölker, S; Konstantopoulou, V; Kožich, V; la Marca, G; Leão Teles, E; Leuzzi, V; Lilliu, F; Lopez, RM; Lund, AM; Mayne, P; Meavilla, S; Moat, SJ; Morris, AA; Okun, JG; Pasquini, E; Pavlíková, M; Pedron-Giner, CC; Racz, GZ; Ribes, A; Ruiz Gomez, MA; Vilarinho, L; Yahyaoui, R; Zerjav Tansek, M; Zetterström, RH; Zeyda, M | 1 |
| Tamimie, HS | 2 |
| 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 |
| Mamunes, P | 1 |
| Alm, J; Larsson, A | 1 |
| Bellisario, R; Pass, KA; Reilly, AA | 1 |
| Brown, DA; Connelly, J; Francis, I; Hill, G; Masters, P; McFarlane, J; Pitt, D; Raby, J; Tucker, RG; Wilcken, B | 1 |
| Bickel, H | 1 |
| Omenn, GS | 1 |
| Guthrie, R; Jinks, DC; Vollmer, DW | 1 |
| Reavey, PC; Yadav, GC | 1 |
| Roth, KS | 1 |
| Winokur, B | 1 |
| Harper, PS | 1 |
| Royer, P | 1 |
| Frimpter, GW | 1 |
| Levy, HL | 1 |
| Frézal, J | 1 |
| Brown, DA; Gaha, TJ; McLeay, AC; Smith, A; Wilcken, B | 1 |
| Machill, G | 1 |
| Halvorsen, S; Skjelkvåle, L | 1 |
| Barbesier, J; Boisse, J; Charpentier, C; Lemonnier, A; Mozziconacci, P | 1 |
| Hagge, W | 1 |
| Clayton, BE | 1 |
| Van Sande, M | 1 |
| Hagge, W; Irtel von Brenndorff, A | 1 |
| Gjessing, LR; Seip, M; Vellan, EJ | 1 |
5 review(s) available for phenylalanine and CBS 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 |
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 |
Aminoacidurias due to inherited disorders of metabolism (first of two parts).
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Cystathionine; Cysteine; Cystine; Disulfides; Female; Homocystinuria; Humans; Infant, Newborn; Lactates; Male; Methionine; Oxidoreductases; Phenylalanine; Phenylketonurias; Pregnancy; Pyruvates; Sulfhydryl Compounds; Sulfites; Sulfur; 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 |
25 other study(ies) available for phenylalanine and CBS Deficiency
| Article | Year |
|---|---|
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Glycine N-Methyltransferase; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Methylmalonic Acid; Muscle Spasticity; Neonatal Screening; Phenylalanine; Psychotic Disorders | 2019 |
Feeding chicks high levels of L-phenylalanine and L-methionine supplemented diets in the study of experimental aspects of phenylketonuria and homocystinuria.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Chemistry; Diet; Growth; Homocystinuria; Humans; Methionine; Norepinephrine; Phenylalanine; Phenylketonurias; Poultry; Serotonin | 1967 |
Influence of niacin and L-tryptophan on the growth depressive performance of chicks fed high levels of L-phenylalanine and L-methionine.
Topics: Animals; Body Weight; Diet; Growth; Homocystinuria; Humans; Methionine; Nicotinic Acids; Phenylalanine; Phenylketonurias; Poultry; Tryptophan | 1967 |
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 |
Evaluation of a nation-wide neonatal metabolic screening programme in Sweden 1965-1979.
Topics: Evaluation Studies as Topic; Galactosemias; Histidine; Homocystinuria; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Sweden; Tyrosine | 1981 |
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 |
Genetic screening of the newborn in Australia. Results for 1978.
Topics: Australia; Blood Stains; Congenital Hypothyroidism; Cystinuria; Female; Fetal Blood; Genetic Testing; Histidine; Homocystinuria; Humans; Hypothyroidism; Infant, Newborn; Infant, Newborn, Diseases; Male; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1979 |
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 |
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 |
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 |
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 |
Subnormality and its relation to psychiatry.
Topics: Adult; Brain; Child; Child Development; Chromosome Aberrations; Chromosome Disorders; Homocystinuria; Humans; Intellectual Disability; Intelligence; Mental Disorders; Metabolism, Inborn Errors; Norepinephrine; Phenethylamines; Phenylalanine; Phenylketonurias; Psychoanalysis; Psychophysiologic Disorders; Psychotic Disorders; Schizophrenia; Serotonin; Sex Chromosome Aberrations | 1974 |
Inborn errors of metabolism-the relationship of clinical and biochemical abnormalities.
Topics: Cystathionine; Diseases in Twins; Glutamine; Homocystinuria; Humans; Infant, Newborn; Intellectual Disability; Lesch-Nyhan Syndrome; Metabolism, Inborn Errors; NADH, NADPH Oxidoreductases; Phenotype; Phenylalanine; Phenylalanine Hydroxylase; Phenylketonurias | 1973 |
[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 |
Screening for metabolic diseases in New South Wales.
Topics: Australia; Biological Assay; Chromatography, Paper; Cystathionine; Cystinuria; Female; Hartnup Disease; Homocystinuria; Humans; Infant, Newborn; Male; Mass Screening; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; Seasons | 1973 |
[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 |
[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 |
[Mass screening of phenylketonuria. Report on a screening center (October 1967-December 1968)].
Topics: Adolescent; Adult; Amino Acids; Bacteriological Techniques; Child; Child, Preschool; Chromatography, Paper; Fluorometry; France; Homocystinuria; Humans; Infant; Infant, Newborn; Mass Screening; Methionine; Phenylalanine; Phenylketonurias; Sampling Studies; Tyrosine | 1969 |
[Amino acid metabolism and mental retardation].
Topics: Diet Therapy; Female; Homocystinuria; Humans; Intellectual Disability; Intelligence; Male; Methionine; Phenylalanine; Phenylketonurias; Pregnancy; Pyridoxine | 1972 |
Experience with a screening service, using the Guthrie test, in the north-west and north-east metropolitan regions.
Topics: Amino Acid Metabolism, Inborn Errors; Biological Assay; Homocystinuria; Humans; Infant; Mass Screening; Methionine; Phenylalanine; Phenylketonurias; Tyrosine | 1971 |
Hair amino acids: normal values and results in metabolic errors.
Topics: Adolescent; Adult; Amino Acids; Child; Child, Preschool; Female; Glutamates; Hair; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Middle Aged; Phenylalanine; Phenylketonurias; Proteins | 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 |
Hair amino acids in cystinosis, homocystinuria, Fölling's disease and tyrosinosis.
Topics: Amino Acids; Autoanalysis; Citrulline; Cystine; Cystinosis; Female; Hair; Homocysteine; Homocystinuria; Humans; In Vitro Techniques; Male; Metabolic Diseases; Methionine; Methods; Phenylalanine; Phenylketonurias; Proline; Tyrosine | 1969 |