Sentence examples for deficiency 1 from inspiring English sources

Leukocyte adhesion deficiency 1 (LAD1) is an inherited disorder of neutrophil function.

Leukocyte adhesion deficiency 1 (LAD1) is an inherited disorder of neutrophil function characterized by recurrent bacterial infections and impaired pus formation and wound healing [1].

For example, the fatal pediatric disorder Combined Oxidative Phosphorylation Deficiency 1 (COXPD1) is caused by mutations in a single gene that encodes the human mitochondrial translation elongation factor G1 (EF-G1).

Until recently, Denmark was a country of iodine deficiency 1 and therefore these nodules are common.

The central problem leading to CFRD is insulin deficiency (1, 18).

Therefore, mutant POR results in clinical presentation with disordered sex development (DSD) and glucocorticoid deficiency (1, 2).

The prototype of a co-stimulation defect is X-linked CD40-ligand deficiency [ 1, 2, 18, 67].

Defects in gut and proximal tubular transport proteins have been associated with albuminuria and B12 deficiency [ 1, 4].

Homologous recombination (HR) is a critical step for DNA repair, and certain types of cancers are HR defective, including BRCA1/2 deficiency [ 1, 2].

Expression of the SQD1 gene, involved in sulfolipid biosynthesis, was also included as a control, since this gene has been previously reported to be up-regulated by Pi deficiency [ 1, 25, 30].

These approaches have been tested in a few animal models of inherited and acquired renal diseases, including carbonic anhydrase II deficiency [1] and experimental glomerulonephritis [2, 3].