Results 291 to 300 of about 75,592 (343)

Epidemiology of 21-Hydroxylase Deficiency in Singapore

Journal of Pediatric Endocrinology and Metabolism, 2002
We report the incidence and epidemiology of 21-hydroxylase deficiency in Singapore, based on a retrospective study of all known patients diagnosed with classical 21-hydroxylase deficiency in the past 21 years. The database was obtained from the case registry and questionnaire methodology, with 100% coverage of all practising pediatricians in Singapore.
Loke, K.Y., Tan, I.T., Lee, W.R.W., Lee, Y.S.   +3 more
openaire   +2 more sources

Late-Onset 21-Hydroxylase Deficiency

2021
The two preceding chapters discussed the classical forms of 21-hydroxylase deficiency, that is, the salt wasting and simple virilizing forms. Late-onset, non-classical 21-hydroxylase deficiency is much more common than these, and it is usually diagnosed in young women with symptoms of androgen excess.
openaire   +1 more source

Molecular pathology of steroid 21-hydroxylase deficiency

The Journal of Steroid Biochemistry and Molecular Biology, 1991
The molecular pathology of steroid 21-hydroxylase deficiency is attributable to unequal crossover-mediated gene deletion or to large- or small-scale replacement of the functional CYP21B gene sequence by a copy of the analogous CYP21A pseudogene sequence.
T, Strachan, P C, White
openaire   +2 more sources

Genetics of Steroid 21-Hydroxylase Deficiency

1987
Publisher Summary Congenital adrenal hyperplasia because of steroid 21-hydroxylase (21-OHase) deficiency is one of the most common inborn errors of metabolism. The 21-OHase locus is closely linked to the HLA major histocompatibility complex, and 21-OHase deficiency alleles show characteristic associations with particular HLA antigens and with alleles
openaire   +2 more sources

21 Hydroxylase Deficiency

2023
Udara D. Senarathne, Yasmine Abdelmeguid, Shaymaa Raafat, James C. G. Doery, Henrik Falhammar   +4 more
openaire   +1 more source

21-Deoxycortisol is a Screening Marker for 21-hydroxylase Deficiency.

Jornal de Pediatria, 2021
P. Held, Eric R Bialk, M. Lasarev, D. Allen   +3 more
semanticscholar   +1 more source

21-Hydroxylase Deficiency

The Endocrinologist, 1992
Louisa Laue, Gordon B. Cutler
openaire   +1 more source

Steroid biomarkers for identifying non-classic adrenal hyperplasia due to 21-hydroxylase deficiency in a population of PCOS with suspicious levels of 17OH-progesterone

Journal of Endocrinological Investigation, 2020
Claudia Oriolo, F. Fanelli, S. Castelli, M. Mezzullo, Paola Altieri, F. Corzani, C. Pelusi, A. Repaci, G. Dalmazi, V. Vicennati, Lilia Baldazzi, S. Menabò, A. Dormi, Elena Nardi, G. Brillanti, Renato Pasquali, Uberto Pagotto, A. Gambineri   +17 more
semanticscholar   +1 more source

Steroid 21-hydroxylase deficiency

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

Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

Nature Medicine, 2022
Anirban Das, Daniel Morgenstern, Ailish C Coblentz   +2 more
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