Results 91 to 100 of about 19,474 (186)

Steroid-21-Hydroxylase-Genmutation [PDF]

, 2019
openaire   +1 more source

Response to Letter to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline".

J Clin Endocrinol Metab, 2019
Speiser PW, Auchus RJ, Merke DP, Miller WL, White PC.   +4 more
europepmc   +1 more source

Autoantikörper gegen Steroid-21-Hydroxylase [PDF]

, 2019
openaire   +1 more source

Congenital adrenal hyperplasia due to steroid 21‐hydroxylase deficiency [PDF]

Clinical Endocrinology, 1998
P W, Speiser, P C, White
openaire   +2 more sources

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline.

J Clin Endocrinol Metab, 2018
Speiser PW, Arlt W, Auchus RJ, Baskin LS, Conway GS, Merke DP, Meyer-Bahlburg HFL, Miller WL, Murad MH, Oberfield SE, White PC.   +10 more
europepmc   +1 more source

Clinical Application of Steroid Profiles and Their Interpretation in Adrenal Disorders. [PDF]

Diagnostics (Basel)
Ramasamy I.
europepmc   +1 more source

Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME·PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGE. [PDF]

J Biol Chem, 2015
Pallan PS, Wang C, Lei L, Yoshimoto FK, Auchus RJ, Waterman MR, Guengerich FP, Egli M.   +7 more
europepmc   +1 more source

Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol Measurement. [PDF]

J Endocr Soc
Lawrence SE, Marcadier J, Auger S, Bariciak E, Chakraborty P, Chambers A, Eagle S, Kowalski M, Marr A, McIntosh N, Saleh DS, Santander E, Sinclair G, Wherrett DK, Henderson MPA.   +14 more
europepmc   +1 more source

Guidelines for Diagnosing Steroid 21-Hydroxylase Deficiency

Clinical Pediatric Endocrinology, 1999
Sumitaka Saisho, Ichiro Yokota, Satoshi Kusuda, Katsuhiko Tachibana, Yoshio Igarashi, Seizo Suwa, Toyozo Umehashi, Masaru Fukushi, Kenji Fujieda   +8 more
openaire   +1 more source

Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX. [PDF]

Orphanet J Rare Dis
Del Monte MA, Hanson J, Bonnen PE.
europepmc   +1 more source