Results 141 to 150 of about 19,718 (218)

Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia. [PDF]

Front Endocrinol (Lausanne)
Graves LE, Christina S, Mullany KL, Alexander IE, Falhammar H.   +4 more
europepmc   +1 more source

B-176 Rapid Diagnosis of 21-Hydroxylase Deficiency Using LC-MS/MS for Urinary Unconjugated Steroid Analysis [PDF]

Terumichi Nakagawa, K. Homma, Sadatomo Shimojo, Hiromitsu Yokota, Masatoshi Wakui, Hiromichi Matsushita   +5 more
openalex   +1 more source

Hydrocortisone dosage at 3 years of age is positively correlated with body mass index at 10 years in individuals with 21-hydroxylase deficiency. [PDF]

Clin Pediatr Endocrinol
Miyahara Y, Hata A, Wada T, Maeyama T, Nishigaki S, Ida S, Etani Y, Kawai M.   +7 more
europepmc   +1 more source

Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.

, 1988
M Amor, K L Parker, Hadas Globerman, Maria I. New, Perrin C. White   +4 more
openalex   +2 more sources

IgG4-related disease presenting with hypercalcemia: case report and mechanistic insights. [PDF]

Front Immunol
Li Y, Niu X, Li L, Hu Z.
europepmc   +1 more source

The Complex Spectrum of 11β-Hydroxylase Deficiency: A Case of Precocious Puberty, Hypertension, and Testicular Adrenal Rest Tumors (TARTs). [PDF]

Cureus
Mangam NB, Deb P, Nalla S, Devireddy S, Choudhary K, Nayani T.   +5 more
europepmc   +1 more source

A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.

, 1990
Shyh‐Horng Chiou, Meng‐Chun Hu, Bon‐chu Chung   +2 more
openalex   +1 more source

When Hormones Shape the Mind: Neuropsychiatric Manifestations in a Patient With Congenital Adrenal Hyperplasia and Genital Ambiguity. [PDF]

Cureus
Galindo D, Gonzalez C, Osorno D, Baños Pabon LC.   +3 more
europepmc   +1 more source

Newborn genetic screening of congenital adrenal hyperplasia using long-read sequencing. [PDF]

Orphanet J Rare Dis
Yang Y, Wang Y, Zhang B, Yu B.
europepmc   +1 more source

Dihydrotanshinone as a Natural Product-Based CYP17A1 Lyase Inhibitor for Hyperandrogenic Disorders. [PDF]

Biomolecules
Li K, Yakubu J, Jørgensen FS, Pandey AV.   +3 more
europepmc   +1 more source