phenylalanine and Adrenal Hyperplasia, Congenital

phenylalanine has been researched along with Adrenal Hyperplasia, Congenital in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19903 (75.00)18.7374
1990's1 (25.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Biason-Lauber, A; Leiberman, E; Zachmann, M1
Omenn, GS1
Hashiba, K; Kagimoto, M; Simpson, ER; Suzuki, S; Waterman, MR; Yanase, T1
Farriaux, JP1

Reviews

1 review(s) available for phenylalanine and Adrenal Hyperplasia, Congenital

ArticleYear
Inborn errors of metabolism: clues to understanding human behavioral disorders.
    Behavior genetics, 1976, Volume: 6, Issue:3

    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

Other Studies

3 other study(ies) available for phenylalanine and Adrenal Hyperplasia, Congenital

ArticleYear
A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.
    The Journal of clinical endocrinology and metabolism, 1997, Volume: 82, Issue:11

    Topics: Adrenal Hyperplasia, Congenital; Alleles; Animals; Binding Sites; Blotting, Southern; COS Cells; Frameshift Mutation; Heterozygote; Humans; Infant, Newborn; Male; Mutation; Oxidation-Reduction; Pedigree; Phenylalanine; Sequence Analysis, DNA; Steroid 17-alpha-Hydroxylase; Transfection

1997
Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
    The Journal of biological chemistry, 1989, Oct-25, Volume: 264, Issue:30

    Topics: Adrenal Hyperplasia, Congenital; Aldehyde-Lyases; Amino Acid Sequence; Animals; Base Sequence; Cell Line; Chromosome Deletion; Cytochrome P-450 Enzyme System; DNA; Female; Genes; Humans; Karyotyping; Leukocytes; Molecular Sequence Data; Mutation; Phenylalanine; Steroid 17-alpha-Hydroxylase; Steroid Hydroxylases

1989
[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