Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can be detected by
newborn screening. The screening alone in 29 programs from 13 countries resulted in the …

In the light of recent advances, severe PID ought to be discussed for their rapid
implementation in national NBS programmes based upon clinical, social and economical …

Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are
inborn errors of immune function that require prompt diagnosis and treatment to prevent life …

Background We report the findings from 4437 individuals (3219 patients and 1218 relatives)
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …

Background: Increased occurrence of several physical conditions has been reported in
patients with depressive disorders. Various physical conditions and depressive disorder …

Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency results in
cortisol and aldosterone deficiency and is, in its most severe form, lethal. We aimed to …

Newborn screening for severe primary immunodeficiencies (PID), characterized by T and/or
B cell lymphopenia, was carried out in a pilot program in the Stockholm County, Sweden …

Objectives. The aim of this study was to evaluate the benefits of neonatal screening for
congenital adrenal hyperplasia (CAH). Methods. All children with CAH born in Sweden from …

A set of methods suitable for assessment of respiratory chain function in mitochondria
isolated from 25mg of muscle is described. This set of methods includes determination of the …

Importance Recent reports have questioned the rationale for neonatal screening for
congenital adrenal hyperplasia (CAH) owing to low sensitivity in salt-wasting forms and a …