Results 271 to 280 of about 75,903 (304)

Kawasaki syndrome and 21‐hydroxylase deficiency

Pediatrics International, 2008
Daisuke, Hazeki, Yuichi, Nomura, Michiyo, Mizota, Keiko, Yotsumoto, Yukiko, Nonaka, Takayuki, Tanabe, Yoshifumi, Kawano   +6 more
openaire   +2 more sources

Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency

Journal of Clinical Endocrinology and Metabolism, 2022
Taninee Sahakitrungruang, Monnat Pongpanich, Patra Yeetong   +2 more
exaly  

Prenatal diagnosis of 21‐hydroxylase deficiency

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

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

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

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

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

Heliyon, 2023
zhaoyajing, wen Zhang
exaly  

Phenylalanine hydroxylase deficiency: diagnosis and management guideline

Genetics in Medicine, 2014
Jerry Vockley, Kevin M Antshel, Nancy E Braverman   +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
exaly