arginine has been researched along with Congenital Adrenal Hyperplasia in 18 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 3 (16.67) | 18.7374 |
| 1990's | 6 (33.33) | 18.2507 |
| 2000's | 5 (27.78) | 29.6817 |
| 2010's | 2 (11.11) | 24.3611 |
| 2020's | 2 (11.11) | 2.80 |
| Authors | Studies |
|---|---|
| Baj, F; DiNardo, G; Gilardi, G; Pandey, AV; Parween, S; Zhang, C | 1 |
| Chugh, V; Dutt Sharma, S; Garg, M; Mangla, A; Mitharwal, P | 1 |
| Gomes, LG; Hartmann, MF; Hershkovitz, E; Loewental, N; Miller, WL; Parvari, R; Wudy, SA | 1 |
| Grötzinger, J; Holterhus, PM; Krone, N; Riepe, FG; Schwarz, HP; Sippell, WG | 1 |
| Li, J; Li, JX; Wang, YP; Zhang, DY; Zhao, YJ | 1 |
| Aguilar-Salinas, CA; Escamilla-Márquez, MA; Garduño-Garcia, Jde J; Gómez Pérez, FJ; Ordóñez-Sanchez, ML; Reza-Albarrán, A; Tusie-Luna, MT | 1 |
| Homoki, J; Moisan, AM; Peter, M; Schwab, KO; Simard, J | 1 |
| Badarneh, K; Gershoni-Baruch, R; Hochberg, Z; Kasinetz, L; Paperna, T | 1 |
| Cingöz, S; Döneray, H; Ozkan, B; Sakizli, M | 1 |
| Araki, K; Baba, T; Hashimoto, K; Kinoshita, E; Kurashige, T; Miyahara, K; Nomoto, S; Toda, K; Yang, LX; Yoshimoto, M | 1 |
| Igarashi, Y; Nakagawa, Y; Ogawa, H; Yamada, M | 1 |
| Fardella, CE; Homoki, J; Hum, DW; Miller, WL | 1 |
| Lajic, S; Levo, A; Lundberg, Y; Nikoshkov, A; Partanen, J; Wedell, A | 1 |
| Ahlgren, R; Simpson, ER; Waterman, MR; Winter, JS; Yanase, T | 1 |
| Chiou, SH; Chung, BC; Hu, MC | 1 |
| Auzoux, M; Rappaport, R | 1 |
| Drash, AL; Kenny, FM; Schutt-Aine, JC; Sperling, MA | 1 |
| Botalla, L; Chiodini, PG; Cremoncini, C; Liuzzi, A; Spinelli, F | 1 |
18 other study(ies) available for arginine and Congenital Adrenal Hyperplasia
| Article | Year |
|---|---|
Differential effects of variations in human P450 oxidoreductase on the aromatase activity of CYP19A1 polymorphisms R264C and R264H.
Topics: Adrenal Hyperplasia, Congenital; Amino Acid Substitution; Androstenedione; Arginine; Aromatase; Cysteine; Cytochrome P-450 CYP1A1; Cytochrome P-450 Enzyme System; Enzyme Activation; Histidine; Humans; Models, Molecular; Mutation, Missense; Polymorphism, Single Nucleotide; Protein Conformation; Structure-Activity Relationship | 2020 |
Non-classical lipoid adrenal hyperplasia presenting as hypoglycemic seizures.
Topics: Adrenal Hyperplasia, Congenital; Adrenal Insufficiency; Amino Acid Substitution; Arginine; Child, Preschool; Cysteine; Diagnosis, Differential; Disorder of Sex Development, 46,XY; Female; Homozygote; Humans; Hypoglycemia; India; Mutation, Missense; Phosphoproteins; Seizures | 2020 |
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
Topics: Adrenal Hyperplasia, Congenital; Adult; Arginine; Base Sequence; Consanguinity; Diagnosis, Differential; DNA Mutational Analysis; Family; Glycine; Homozygote; Humans; Male; NADPH-Ferrihemoprotein Reductase; Pedigree; Point Mutation; Steroid 17-alpha-Hydroxylase | 2008 |
Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).
Topics: Adrenal Hyperplasia, Congenital; Animals; Arginine; Base Sequence; Chlorocebus aethiops; COS Cells; DNA Mutational Analysis; Glutamic Acid; Humans; Infant; Male; Methionine; Models, Molecular; Mutation, Missense; Pedigree; Polymorphism, Single Nucleotide; Steroid 11-beta-Hydroxylase; Transfection | 2009 |
Three novel CYP17A1 gene mutations (A82D, R125X, and C442R) found in combined 17α-hydroxylase/17,20-lyase deficiency.
Topics: Adrenal Hyperplasia, Congenital; Adult; Alanine; Amino Acid Substitution; Arginine; Aspartic Acid; Base Sequence; Cells, Cultured; Cysteine; Female; Humans; Mutation, Missense; Steroid 17-alpha-Hydroxylase; Young Adult | 2011 |
Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine - stop mutation.
Topics: Adrenal Hyperplasia, Congenital; Adult; Amenorrhea; Arginine; Codon, Nonsense; Female; Humans; Mutation; Steroid 17-alpha-Hydroxylase | 2012 |
17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister.
Topics: Adolescent; Adrenal Hyperplasia, Congenital; Adult; Arginine; Body Height; Codon, Nonsense; Disorders of Sex Development; Estrogens; Estrogens, Conjugated (USP); Female; Growth Disorders; Heterozygote; Humans; Leucine; Mutation; Mutation, Missense; Orchiectomy; Proline; Puberty; Steroid 17-alpha-Hydroxylase | 2005 |
Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.
Topics: Adrenal Hyperplasia, Congenital; Adult; Arginine; Base Sequence; Codon; Female; Gene Frequency; Genetic Testing; Heterozygote; Histidine; Humans; Infant, Newborn; Jews; Morocco; Mutation; Pedigree; Steroid 11-beta-Hydroxylase | 2005 |
Familial pericentric inversion chromosome 3 and R448C mutation of CYP11B1 gene in Turkish kindred with 11beta-hydroxylase deficiency.
Topics: Adrenal Hyperplasia, Congenital; Amino Acid Substitution; Arginine; Child; Child, Preschool; Chromosome Inversion; Chromosomes, Human, Pair 3; Cysteine; DNA Mutational Analysis; Humans; Male; Mutation, Missense; Pedigree; Steroid 11-beta-Hydroxylase; Turkey | 2007 |
Classic steroid 11 beta-hydroxylase deficiency caused by a C-->G transversion in exon 7 of CYP11B1.
Topics: Adolescent; Adrenal Hyperplasia, Congenital; Amino Acid Sequence; Arginine; Base Sequence; Consanguinity; Cytosine; DNA Primers; Exons; Female; Genes, Recessive; Glycine; Guanine; Humans; Introns; Male; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Reference Values; Steroid 11-beta-Hydroxylase; Substrate Specificity | 1995 |
Missense mutation in CYP11B1 (CGA[Arg-384]-->GGA[Gly]) causes steroid 11 beta-hydroxylase deficiency.
Topics: Adrenal Hyperplasia, Congenital; Amino Acid Sequence; Arginine; Base Sequence; Child; Cytochrome P-450 CYP11B2; Cytochrome P-450 Enzyme System; Female; Glycine; Humans; Male; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Steroid 11-beta-Hydroxylase | 1995 |
Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.
Topics: Adolescent; Adrenal Hyperplasia, Congenital; Arginine; Base Sequence; Cell Line; Female; Germany; Histidine; Humans; Hypertension; Hypokalemia; Molecular Sequence Data; Mutagenesis, Site-Directed; Point Mutation; Polymerase Chain Reaction; Steroid 17-alpha-Hydroxylase; Transfection | 1994 |
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction.
Topics: Adrenal Hyperplasia, Congenital; Adult; Amino Acid Sequence; Arginine; Blotting, Western; DNA Mutational Analysis; Female; Gene Deletion; Humans; Infant; Male; Molecular Sequence Data; Mutagenesis, Site-Directed; Mutation; Oxidation-Reduction; Pedigree; Sequence Alignment; Steroid 21-Hydroxylase | 1997 |
Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
Topics: Adrenal Hyperplasia, Congenital; Aldehyde-Lyases; Alleles; Amino Acid Sequence; Animals; Arginine; Base Sequence; Blotting, Southern; Cell Line; Child; Cytochrome P-450 Enzyme System; Disorders of Sex Development; DNA; Heterozygote; Humans; Leukocytes; Male; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Polymerase Chain Reaction; Proline; Restriction Mapping; Steroid 17-alpha-Hydroxylase; Threonine; Transfection | 1992 |
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
Topics: Adolescent; Adrenal Hyperplasia, Congenital; Arginine; Asparagine; Base Sequence; Codon; DNA; Female; Genes; Humans; Isoleucine; Molecular Sequence Data; Mutation; Oligonucleotide Probes; Plasmids; Reference Values; Restriction Mapping; Steroid 21-Hydroxylase; Steroid Hydroxylases; Transfection; Tryptophan | 1990 |
Insulin secretion in children with adrenogenital syndrome treated with low doses of oral hydrocortisone.
Topics: Adolescent; Adrenal Hyperplasia, Congenital; Adrenal Insufficiency; Adult; Age Determination by Skeleton; Arginine; Blood Glucose; Body Height; Child; Child, Preschool; Fasting; Glucose; Growth Hormone; Humans; Hydrocortisone; Hyperinsulinism; Insulin; Insulin Secretion; Radioimmunoassay; Stimulation, Chemical | 1972 |
Linear growth and growth hormonal responsiveness in treated congenital adrenal hyperplasia.
Topics: Adolescent; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Arginine; Child; Child, Preschool; Cortisone; Female; Growth; Growth Disorders; Growth Hormone; Humans; Infant; Infant, Newborn; Insulin; Male | 1971 |
[Behavior of somatotropinemia and insulinemia in some forms of short stature].
Topics: Adolescent; Adrenal Hyperplasia, Congenital; Adult; Arginine; Blood Glucose; Child; Diagnosis, Differential; Dwarfism; Dwarfism, Pituitary; Fatty Acids, Nonesterified; Female; Growth Hormone; Humans; Insulin; Male; Rickets; Turner Syndrome | 1969 |