phenylalanine and Cretinism

phenylalanine has been researched along with Cretinism in 12 studies

Research

Studies (12)

TimeframeStudies, this research(%)All Research%
pre-19909 (75.00)18.7374
1990's0 (0.00)18.2507
2000's1 (8.33)29.6817
2010's1 (8.33)24.3611
2020's1 (8.33)2.80

Authors

AuthorsStudies
Hasegawa, T; Kashimada, K; Narumi, S; Ono, M; Sugisawa, C1
Qin, YF; Zhan, JY; Zhao, ZY1
Becerra, C; Cabello, JF; Colombo, M; Cornejo, V; Opazo, M; Raimann, E; Valiente, A1
Levy, HL; Mitchell, ML1
Bowling, F; Brown, DA; Connelly, J; Francis, I; Hancock, J; Hill, G; Masters, P; McFarlane, J; Pitt, D; Raby, J; Robertson, E; Wilcken, B1
Gregg, JB; Stanage, WF1
Brown, DA; Connelly, J; Francis, I; Hancock, J; Hill, G; Masters, P; McFarlane, J; Pitt, D; Raby, J; Robertson, E; Tucker, RG; Wilcken, B1
Brown, DA; Connelly, J; Francis, I; Hill, G; Masters, P; McFarlane, J; Pitt, D; Raby, J; Tucker, RG; Wilcken, B1
Farriaux, JP1
Narayanan, HS; Rao, BS; Reddy, GN1

Other Studies

12 other study(ies) available for phenylalanine and Cretinism

ArticleYear
Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron.
    The Journal of clinical endocrinology and metabolism, 2021, 01-01, Volume: 106, Issue:1

    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.
    World journal of pediatrics : WJP, 2009, Volume: 5, Issue:2

    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.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    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.
    Hospital practice (Office ed.), 1982, Volume: 17, Issue:7

    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.
    The Medical journal of Australia, 1983, Apr-02, Volume: 1, Issue:7

    Topics: Australia; Congenital Hypothyroidism; Genetic Testing; Humans; Hypothyroidism; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine; Phenylketonurias

1983
Hyperphenylalaninemia (PKU) and hypothyroid testing.
    South Dakota journal of medicine, 1982, Volume: 35, Issue:7

    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.
    Pediatrics, 1982, Volume: 69, Issue:1

    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.
    The Medical journal of Australia, 1982, Feb-06, Volume: 1, Issue:3

    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.
    The Medical journal of Australia, 1979, Sep-08, Volume: 2, Issue:5

    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].
    Pediatrie, 1988, Volume: 43, Issue:4

    Topics: Adrenal Hyperplasia, Congenital; Congenital Hypothyroidism; France; Humans; Infant, Newborn; Phenylalanine; Phenylketonurias

1988
[Neonatal screening for congenital errors of metabolism. Evian, April 1986].
    Archives francaises de pediatrie, 1987, Volume: 44 Suppl 1

    Topics: Congenital Hypothyroidism; Humans; Infant, Newborn; Metabolism, Inborn Errors; Phenylalanine

1987
A clinical and biochemical survey of 729 cases of mental subnormality.
    The British journal of psychiatry : the journal of mental science, 1971, Volume: 118, Issue:546

    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