Congenital adrenal hyperplasia - Open Access .click

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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 +8 more
doaj +1 more source

A model for measuring the health burden of classic congenital adrenal hyperplasia in adults [PDF]

, 2016
This is the author accepted manuscript. The final version is available from the publisher via the DOI in this record.Aim: Patients with classic Congenital Adrenal Hyperplasia (CAH) have poor health outcomes.
Ara, RM +5 more
core +1 more source

Study of awareness of adrenal disorders among interns and postgraduate students of Hamidia Hospital, Bhopal

Indian Journal of Endocrinology and Metabolism, 2017
Introduction: Adrenal disorders could be a life-threatening emergency, hence requires immediate therapeutic management. For this awareness regarding its diagnosis, management, and treatment is prime important.
Sachin Chittawar +3 more
doaj +1 more source

Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba [PDF]

, 2021
Tania Mayvel Espinosa Reyes +5 more
openalex +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 +4 more
doaj +2 more sources

Children with Classic Congenital Adrenal Hyperplasia Have Elevated Serum Leptin Concentrations and Insulin Resistance: Potential Clinical Implications [PDF]