Results 251 to 260 of about 75,592 (343)

Life With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Challenges and Burdens.

J Clin Endocrinol Metab
Witchel SF, Miller T, McCann E, Gupta A.
europepmc   +1 more source

Congenital Adrenal Hyperplasia - A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India. [PDF]

Indian J Endocrinol Metab
Ravichandran L, Asha HS, Mathai S, Thomas N, Chapla A.   +4 more
europepmc   +1 more source

Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome. [PDF]

J Transl Med
Li S, Hua R, Han X, Xu Y, Li M, Gao L, Ma R, Meng W, Mao A, Wang J, Wang Y.   +10 more
europepmc   +1 more source

Challenges in Adolescent and Adult Males With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

J Clin Endocrinol Metab
Claahsen-van der Grinten HL, Adriaansen BPH, Falhammar H.   +2 more
europepmc   +1 more source

Increased risk of nephrolithiasis: an emerging issue in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. [PDF]

Endocrine
Chiarito M, Lattanzio C, D'Ascanio V, Capalbo D, Cavarzere P, Grandone A, Aiello F, Pepe G, Wasniewska M, Zoller T, Salerno M, Faienza MF.   +11 more
europepmc   +1 more source

Prenatal Diagnosis of Congenital Adrenal Hyperplasia due to Deficiency of Steroid 21-Hydroxylase Enzyme - Experience from a Tertiary Care Center in India

Sudhisha Dubey, Renu Saxena, Sudha Kohli, Gaurav Roy, Deepti Gupta, Hansraj Jaswal, Sunita Bijarnia‐Mahay, Ratna Dua Puri   +7 more
openalex   +1 more source

Rare nonclassic type of Congenital adrenal hyperplasia due to 21-hydroxylase deficiency and genotype-phenotypic correlation. [PDF]

Heliyon
Hou Y, Li Y, Ai J, Tian L.
europepmc   +1 more source

Clinical Manifestations and Challenges in Adolescent and Adult Females With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

J Clin Endocrinol Metab
Engberg H, Nordenström A, Hirschberg AL.   +2 more
europepmc   +1 more source