phenylalanine has been researched along with Cretinism in 12 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 9 (75.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 1 (8.33) | 29.6817 |
2010's | 1 (8.33) | 24.3611 |
2020's | 1 (8.33) | 2.80 |
Authors | Studies |
---|---|
Hasegawa, T; Kashimada, K; Narumi, S; Ono, M; Sugisawa, C | 1 |
Qin, YF; Zhan, JY; Zhao, ZY | 1 |
Becerra, C; Cabello, JF; Colombo, M; Cornejo, V; Opazo, M; Raimann, E; Valiente, A | 1 |
Levy, HL; Mitchell, ML | 1 |
Bowling, F; Brown, DA; Connelly, J; Francis, I; Hancock, J; Hill, G; Masters, P; McFarlane, J; Pitt, D; Raby, J; Robertson, E; Wilcken, B | 1 |
Gregg, JB; Stanage, WF | 1 |
Brown, DA; Connelly, J; Francis, I; Hancock, J; Hill, G; Masters, P; McFarlane, J; Pitt, D; Raby, J; Robertson, E; Tucker, RG; Wilcken, B | 1 |
Brown, DA; Connelly, J; Francis, I; Hill, G; Masters, P; McFarlane, J; Pitt, D; Raby, J; Tucker, RG; Wilcken, B | 1 |
Farriaux, JP | 1 |
Narayanan, HS; Rao, BS; Reddy, GN | 1 |
12 other study(ies) available for phenylalanine and Cretinism
Article | Year |
---|---|
Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron.
Topics: Amino Acid Substitution; Arginine; Child, Preschool; Congenital Hypothyroidism; DNA Mutational Analysis; Frameshift Mutation; HEK293 Cells; Histidine; Humans; Hydrophobic and Hydrophilic Interactions; Male; Parents; Pedigree; Phenylalanine; Protein Domains; Protein Stability; Proteolysis; Receptors, Thyrotropin; Valine | 2021 |
Neonatal screening for congenital hypothyroidism and phenylketonuria in China.
Topics: Biomarkers; China; Congenital Hypothyroidism; Humans; Infant, Newborn; Neonatal Screening; Phenylalanine; Phenylketonurias; Prevalence; Reference Values; Retrospective Studies; Thyrotropin | 2009 |
Past, present and future of newborn screening in Chile.
Topics: Biomarkers; Chile; Congenital Hypothyroidism; Dried Blood Spot Testing; Forecasting; Genetic Predisposition to Disease; History, 20th Century; History, 21st Century; Humans; Incidence; Infant, Newborn; Neonatal Screening; Phenotype; Phenylalanine; Phenylketonurias; Predictive Value of Tests; Prognosis; Program Development; Program Evaluation; Thyroid Hormones; Time Factors | 2010 |
The current status of newborn screening.
Topics: Bacteriological Techniques; Blood Specimen Collection; Congenital Hypothyroidism; Humans; Hypothyroidism; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Phenylalanine; Phenylketonurias; Thyrotropin; Thyroxine; United States | 1982 |
Genetic screening of newborn in Australia. Results for 1981.
Topics: Australia; Congenital Hypothyroidism; Genetic Testing; Humans; Hypothyroidism; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias | 1983 |
Hyperphenylalaninemia (PKU) and hypothyroid testing.
Topics: Congenital Hypothyroidism; Humans; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias; South Dakota | 1982 |
American Academy of Pediatrics Committee on Genetics: New issues in newborn screening for phenylketonuria and congenital hypothyroidism.
Topics: Biopterins; Congenital Hypothyroidism; Female; Humans; Hypothyroidism; Infant, Newborn; Mass Screening; Phenylalanine; Phenylketonurias; Pregnancy; Thyroid Hormones | 1982 |
Genetic screening of newborn in Australia: results for 1980.
Topics: Australia; Congenital Hypothyroidism; Cystic Fibrosis; Female; Genetic Testing; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1982 |
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 |
[20 years' neonatal detection. Results and prospects].
Topics: Adrenal Hyperplasia, Congenital; Congenital Hypothyroidism; France; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias | 1988 |
[Neonatal screening for congenital errors of metabolism. Evian, April 1986].
Topics: Congenital Hypothyroidism; Humans; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine | 1987 |
A clinical and biochemical survey of 729 cases of mental subnormality.
Topics: Angiomatosis; Child; Child, Preschool; Congenital Hypothyroidism; Down Syndrome; Female; Hartnup Disease; Humans; India; Infant; Intellectual Disability; Laurence-Moon Syndrome; Lipidoses; Male; Marfan Syndrome; Microcephaly; Mucopolysaccharidoses; Phenylalanine; Phenylketonurias; Sex Factors; Syphilis, Congenital | 1971 |