177 related articles for article (PubMed ID: 30111479)
1. [17α-Hydroxylase deficiency with severe hypertension as the initial symptom in a child].
Wei HL; Lu S; Wang XL; Li JW; Cui YP; Yao YS
Zhongguo Dang Dai Er Ke Za Zhi; 2018 Aug; 20(8):675-679. PubMed ID: 30111479
[TBL] [Abstract][Full Text] [Related]
2. An easily missed diagnosis: 17-alpha-hydroxylase/17,20-lyase deficiency.
Küçükemre-Aydın B; Öğrendil-Yanar Ö; Bilge I; Baş F; Poyrazoğlu Ş; Yılmaz A; Emre S; Bundak R; Saka N; Darendeliler F
Turk J Pediatr; 2015; 57(3):277-81. PubMed ID: 26701948
[TBL] [Abstract][Full Text] [Related]
3. Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign.
Çamtosun E; Şıklar Z; Ceylaner S; Kocaay P; Berberoğlu M
J Clin Res Pediatr Endocrinol; 2017 Jun; 9(2):163-167. PubMed ID: 28008861
[TBL] [Abstract][Full Text] [Related]
4. 17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 gene.
Petri C; Wudy SA; Riepe FG; Holterhus PM; Siegel J; Hartmann MF; Kulle AE; Welzel M; Grötzinger J; Schild RL; Heger S
Horm Res Paediatr; 2014; 81(5):350-5. PubMed ID: 24714196
[TBL] [Abstract][Full Text] [Related]
5. Flash glucose monitoring system was applied to cortisol treatment for a patient with congenital adrenal hyperplasia and 17α-hydroxylase deficiency.
Xiang C; Han M; Zhang Y; Yin J; Pei L; Yang J; Liu Y
BMC Endocr Disord; 2020 Sep; 20(1):144. PubMed ID: 32957973
[TBL] [Abstract][Full Text] [Related]
6. Genetic diagnosis and clinical analysis of 17α-hydroxylase/17, 20-lyase deficiency combined with type 2 diabetes mellitus: A case report.
Zhang Y; Yuan Y
Medicine (Baltimore); 2023 Dec; 102(52):e36727. PubMed ID: 38206738
[TBL] [Abstract][Full Text] [Related]
7. Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17α-hydroxylase/17,20-lyase deficiency.
Yamagata S; Kageyama K; Usui T; Saito K; Takayasu S; Usutani M; Terui K; Daimon M
Endocr J; 2022 Feb; 69(2):115-120. PubMed ID: 34483146
[TBL] [Abstract][Full Text] [Related]
8. A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
Sun M; Yan X; Feng A; Wu X; Ye E; Wu H; Lu X; Yang H
Discov Med; 2017 Nov; 24(133):175-182. PubMed ID: 29278670
[TBL] [Abstract][Full Text] [Related]
9. 17α-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS.
Wu C; Fan S; Qian Y; Zhou Y; Jin J; Dai Z; Jiang L
Endocr Pract; 2017 May; 23(5):576-582. PubMed ID: 28225307
[TBL] [Abstract][Full Text] [Related]
10. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
Kim YM; Kang M; Choi JH; Lee BH; Kim GH; Ohn JH; Kim SY; Park MS; Yoo HW
Metabolism; 2014 Jan; 63(1):42-9. PubMed ID: 24140098
[TBL] [Abstract][Full Text] [Related]
11. Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene.
Nájera N; Garibay N; Pastrana Y; Palma I; Peña YR; Pérez J; Coyote N; Hidalgo A; Kofman-Alfaro S; Queipo G
Endocr Pathol; 2009; 20(4):249-55. PubMed ID: 19728179
[TBL] [Abstract][Full Text] [Related]
12. Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency.
Kurnaz E; Kartal Baykan E; Türkyılmaz A; Yaralı O; Yavaş Abalı Z; Turan S; Bereket A; Çayır A; Guran T
Horm Res Paediatr; 2020; 93(9-10):558-566. PubMed ID: 33780934
[TBL] [Abstract][Full Text] [Related]
13. 17α-HYDROXYLASE DEFICIENCY IS AN UNDERDIAGNOSED DISEASE: HIGH FREQUENCY OF MISDIAGNOSES IN A LARGE COHORT OF BRAZILIAN PATIENTS.
Fontenele R; Costa-Santos M; Kater CE
Endocr Pract; 2018 Feb; 24(2):170-178. PubMed ID: 29144824
[TBL] [Abstract][Full Text] [Related]
14. Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency.
Takeda Y; Yoneda T; Demura M; Furukawa K; Koshida H; Miyamori I; Mabuchi H
Clin Endocrinol (Oxf); 2001 Jun; 54(6):751-8. PubMed ID: 11422109
[TBL] [Abstract][Full Text] [Related]
15. A report of congenital adrenal hyperplasia due to 17α-hydroxylase deficiency in two 46,XX sisters.
Espinosa-Herrera F; Espín E; Tito-Álvarez AM; Beltrán LJ; Gómez-Correa D; Burgos G; Llamos A; Zurita C; Rojas S; Dueñas-Espín I; Cueva-Ludeña K; Salazar-Vega J; Pinto-Basto J
Gynecol Endocrinol; 2020 Jan; 36(1):24-29. PubMed ID: 31464148
[TBL] [Abstract][Full Text] [Related]
16. A late 17α-hydroxylase deficiency diagnosis that leads to the discovery of a new CYP17 gene mutation.
Guenego A; Morel Y; Ionesco O; Mallet D; Priou-Guesdon M
Ann Endocrinol (Paris); 2015 Feb; 76(1):71-4. PubMed ID: 25613935
[TBL] [Abstract][Full Text] [Related]
17. Novel mutation of the CYP17 gene in two unrelated patients with combined 17alpha-hydroxylase/17,20-lyase deficiency: demonstration of absent enzyme activity by expressing the mutant CYP17 gene and by three-dimensional modeling.
Patocs A; Liko I; Varga I; Gergics P; Boros A; Futo L; Kun I; Bertalan R; Toth S; Pazmany T; Toth M; Szücs N; Horanyi J; Glaz E; Racz K
J Steroid Biochem Mol Biol; 2005 Nov; 97(3):257-65. PubMed ID: 16176874
[TBL] [Abstract][Full Text] [Related]
18. Presentation, Diagnosis, and Follow-Up Characteristics of 17α-Hydroxylase Deficiency Cases with Exon 1-6 Deletion (Founder Mutation) in the CYP17A1Gene: 20-Year Single-Center Experience.
Dundar I; Akinci A; Camtosun E; Ciftci N; Kayas L
Sex Dev; 2023; 17(1):43-50. PubMed ID: 36652930
[TBL] [Abstract][Full Text] [Related]
19. Congenital adrenal hyperplasia disorder due to 17 α-hydroxylase deficiency: a case report.
Tian Y; Hou L; Xiang S; Tian X; Xu J
Gynecol Endocrinol; 2023 Aug; 39(1):2250001. PubMed ID: 37683689
[TBL] [Abstract][Full Text] [Related]
20. Rare hypertension as a result of 17alpha-hydroxylase deficiency.
Wang W; Fu JF; Gong FQ; Zhu WH; Shen Z
J Pediatr Endocrinol Metab; 2011; 24(5-6):333-7. PubMed ID: 21823532
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]