Results 101 to 110 of about 41,875 (218)

Long-Term Health Outcomes of Korean Adults With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency [PDF]

, 2021
Seung Gyun Lim, Young Ah Lee, Han Na Jang, Sung Hye Kong, Chang Ho Ahn, Sang Wan Kim, Choong Ho Shin, Jung Hee Kim   +7 more
openalex   +1 more source

Long‐term use of continuous subcutaneous hydrocortisone infusion therapy in patients with congenital adrenal hyperplasia

Clinical Endocrinology, 2018
In a phase 2 short‐term (6 months) study of patients with congenital adrenal hyperplasia (CAH), continuous subcutaneous hydrocortisone infusion (CSHI) was found to be a safe, effective and well‐tolerated method of replacing cortisol with improved disease
A. Mallappa, A. Nella, N. Sinaii, Hamsini Rao, V. Gounden, Ashley F. Perritt, Parag Kumar, A. Ling, Chia-Ying Liu, S. Soldin, D. Merke   +10 more
semanticscholar   +1 more source

AAV-delivered hepato-adrenal cooperativity in steroidogenesis: Implications for gene therapy for congenital adrenal hyperplasia

Molecular Therapy: Methods & Clinical Development
Despite the availability of life-saving corticosteroids for 70 years, treatment for adrenal insufficiency is not able to recapitulate physiological diurnal cortisol secretion and results in numerous complications.
Lara E. Graves, Eva B. van Dijk, Erhua Zhu, Sundar Koyyalamudi, Tiffany Wotton, Dinah Sung, Shubha Srinivasan, Samantha L. Ginn, Ian E. Alexander   +8 more
doaj   +1 more source

Growth and body proportions in congenital adrenal hyperplasia. [PDF]

, 1989
Michael C. Young, J Ribeiro, I A Hughes
openalex   +1 more source

The Advance of In Silico Evidence to Transform Pediatric Drug Development for Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 11, Page 1731-1734, November 2025.
Jane Knöchel, Ping Zhao, Rajat Desikan, Jiawei Zhou, João A. Abrantes, Lutz Harnisch   +5 more
wiley   +1 more source

Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency

Revista Finlay, 2019
Background: congenital adrenal hyperplasia is the most frequent cause of sexual ambiguity in childhood. Molecular diagnosis is an element to be considered for the management and genetic counseling of patients and relatives at risk. Objective: to identify
Taimí Barrueta Ordóñez, Teresa Collazo Mesa, Paulina Lantigua Cruz, Adrián de Jesús González Navarro, Tania Espinosa Reyes   +4 more
doaj   +2 more sources

Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia. [PDF]

, 1996
Fergus Cameron, N. F. Tebbutt, Joseph Montalto, A. B. W. YONG, Margaret Zacharin, James D. Best, Garry L. Warne   +6 more
openalex   +1 more source

Acanthosis nigricans in association with congenital adrenal hyperplasia: resolution after treatment. Case report

The Turkish Journal of Pediatrics, 2005
A case is described of a three-day-old female with salt wasting type of 21-hydroxylase deficient congenital adrenal hyperplasia who presented with acanthosis nigricans of both axillae.
Selim Kurtoğlu, M Emre Atabek, Mehmet Keskin, Ozlem Canöz   +3 more
doaj  

OC29.05: Just images: Ambiguous genitalia prenatal diagnosis: congenital adrenal hyperplasia [PDF]

, 2005
M. Rodríguez, C Millán, Pilar Prats, Magdelena Ruiz, M. Torrents, Bernat Serra   +5 more
openalex   +1 more source

A recent overview of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: pathophysiology, recognition, and management [PDF]

, 2023
Rafał Podgórski, Dominika Podgórska, Marta Sumińska   +2 more
openalex   +1 more source