Results 271 to 280 of about 57,073 (302)

Prenatal diagnosis of 21‐hydroxylase deficiency

Prenatal Diagnosis, 1988
Marilyn S. Pollack, Cynthia Callaway, David H. Maurer   +2 more
openaire   +2 more sources

17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature

Journal of the Endocrine Society, 2022
Sneha Arya, Anurag Lila, Vijaya Sarathi   +2 more
exaly  

21-Deoxycortisol is a Key Screening Marker for 21-Hydroxylase Deficiency

Journal of Pediatrics, 2022
Patrice K Held, Michael R Lasarev, David B Allen   +2 more
exaly  

Clinical and Genetic Characteristics of 17 α-Hydroxylase/17, 20-Lyase Deficiency: c.985_987delTACinsAA Mutation of CYP17A1 Prevalent in the Chinese Han Population

Endocrine Practice, 2021
Xiangdong Kong
exaly  

Steroid 21-hydroxylase deficiency

Current Opinion in Pediatrics, 1989
Perrin C. White, Christopher Crawford, Maria I. New   +2 more
openaire   +1 more source

Severe hypertension caused by 17α-hydroxylase deficiency: A case report

Heliyon, 2023
Yajing Zhao, Wen Zhang
exaly  

CLOSE GENETIC LINKAGE BETWEEN HLA AND CONGENITAL ADRENAL HYPERPLASIA (21-HYDROXYLASE DEFICIENCY)

Lancet, The, 1977
B Dupont, Sharon E Oberfield, Lenore S Levine   +2 more
exaly  

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Genetics in Medicine, 2014
Jerry Vockley, Hans C Andersson, Kevin M Antshel   +2 more
exaly  

Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient

Fertility and Sterility, 2011
Chaoming Wu, Chao Zheng
exaly  

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Brain, 2010
Michel A A P Willemsen, Marcel M Verbeek, Alec Aeby   +2 more
exaly