Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the biochemic ...

Lysosomal storage diseases (LSDs) are a group of hereditary disorders that disrupt lysosomal function, specifically, enzymes involved in cell metab ...

Urea cycle disorders (UCDs) are inborn errors of metabolism (IEMs) resulting from defects in any 1 of the six enzymes or 2 transporters involved in ...

Anemia is a common sign in both inpatient and outpatient settings and is defined as a decrease in the number of circulating red blood cells or ...

Cholesteatoma is a confusing misnomer which means fatty bile tumor; however, cholesteatomas are benign collections of keratinized squamous epitheli ...

Adrenal hypoplasia is a condition in which there is underdevelopment or hypotrophy of the adrenal cortex due to several clinical conditions. It can ...