Results 161 to 170 of about 19,718 (218)

Unraveling the genetic and pathophysiological mechanisms underlying disorders of sex development. [PDF]

Intractable Rare Dis Res
Wang Y, Zhao H, Yan H, Wang Y.
europepmc   +1 more source

Stereoselective 15α-hydroxylation of androsta-1,4-diene-3,17-dione by <i>Gibberella</i> sp. for efficient production of 15α-OH-ADD and 15α-OH-AD. [PDF]

RSC Adv
He R, Song M, Fu R, Jin Y, Li S, Wang F, Zhang G, Song Y, Xu W.   +8 more
europepmc   +1 more source

Three misdiagnoses before a final diagnosis of 17α-hydroxylase/17,20-lyase deficiency: A case report. [PDF]

Medicine (Baltimore)
Li J, Lu Y.
europepmc   +1 more source

The First-Year Outcomes of the Nationwide Neonatal CAH Screening in Türkiye: High Rate of False Positives for 21-Hydroxylase Deficiency and a Higher Detection Rate of Non-Classical Cases [PDF]

J Clin Res Pediatr Endocrinol
Güran T, Yürüker E, Anık A, Atar M, Çamtosun E, Eviz E, İsakoca M, Mengen E, Gürpınar Tosun B, Turan İ, Kılınç Uğurlu A, Ünal E, Vurallı D, Can Yılmaz G, Aydoğmuş YH, Darcan Ş.   +15 more
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Mild Autonomous Cortisol Secretion in Congenital Adrenal Hyperplasia Managed With Mini Back Scope Adrenalectomy. [PDF]

JCEM Case Rep
Carling T, Mayers RA, LaRue M, Kalik A.
europepmc   +1 more source

Fetal Ovarian Cyst Associated With Disorders of Sex Development: A Case Report. [PDF]

Cureus
Rosado-Guzmán AS, Escobedo-Enríquez ZV, Arellano-Llamas AA, Sánchez Balpuesta OR, Pérez-Lemus CN.   +4 more
europepmc   +1 more source

Hypercalcemia in metastatic pancreatic neuroendocrine tumor: a case report of ectopic 1,25 hydroxyvitamin D production by tumor cells and tumor-associated macrophages. [PDF]

J Gastrointest Oncol
Lau SM, Wijewardene A, Haghighi K, Gill AJ, Sierro F.   +4 more
europepmc   +1 more source

Endocrine and metabolic determinants of cardiometabolic risk in mild autonomous cortisol secretion. [PDF]

EBioMedicine
Prete A, Abdi L, Canducci M, van den Brandhof EL, Albors-Zumel A, Jenkinson C, Gilligan LC, Zhang Y, Visser L, Chortis V, Najdekr L, Jankevics A, Lloyd GR, Winder CL, Tsagarakis S, Lang K, Macech M, Fell V, Vodanovic ID, Reimondo G, Marina LV, Deutschbein T, Balomenaki M, O'Reilly MW, Bednarczuk T, Dusek T, Diamantopoulos A, Asia M, Kondracka A, Yu K, Masjkur JR, Quinkler M, Ueland GÅ, Dennedy MC, Beuschlein F, Tabarin A, Fassnacht M, Ivovic M, Terzolo M, Kastelan D, Young WF, Manolopoulos KN, Ambroziak U, Vassiliadi DA, Bancos I, Sitch AJ, Taylor AE, Tino P, Biehl M, Dunn WB, Arlt W, ENSAT EURINE-ACT Investigators.   +51 more
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Molecular Cloning of Steroid 21-Hydroxylase

Endocrine Research, 1984
Congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency is HLA-linked. The haplotype HLA-(A3);Bw47;DR7 is strongly associated with 21-OH deficiency and always carries a null allele at the complement C4A (Rodgers) locus. It seemed likely that this haplotype carries a deletion encompassing both the C4A and 21-OH loci. We hypothesized that
P C, White, B, Dupont, M I, New
openaire   +5 more sources