Sentence examples for partial deficiencies from inspiring English sources

Partial deficiencies of the enzyme can present later in adulthood with protean neuropsychiatric signs and symptoms.

Patients with partial deficiencies of steroidogenic enzymes are at risk to be misdiagnosed if adrenal function is not assessed.

Even though SLE is an immune complexes disease, its association with homozygous C3 deficiency has only been reported in 3 Japanese patients [ 8], and so far, partial deficiencies of complement proteins have not been associated with SLE [ 5, 6].

The product of the gene is an essential enzyme in the glucose-sensing mechanism of β-cells, and mutations in this gene lead to partial deficiencies of insulin secretion.

An increased risk of thrombotic disease has been associated with partial deficiencies or loss of function mutations in the PC pathway, including deficiencies in PC, its cofactor protein S, or proteins involved in the activation of PC [ 20].

Patients with defects in the production of IFN gamma or other cytokines or partial deficiencies of IFN gamma receptor can obtain benefits with IFN gamma treatment [ 10, 13, 42].

Given the estimated incidence of ACE inhibitor-induced angioedema of 0.1 to 1.0%% [4] and the large number of patients on ACE inhibitors, one theory is that affected individuals have an underlying partial deficiency of C-1 esterase [2].

In heterozygous females, brain copper levels tended to be lower compared to wild type whereas neurochemical analyses revealed higher dihydroxyphenylacetic acid:dihydroxyphenylglycol (DOPAC DHPG) and dopamine:norepinephrine (DA NE) ratios compared to normal (P = 0.002 and 0.029, respectively), consistent with partial deficiency of dopamine-beta-hydroxylase, a copper-dependent enzyme.

Hence, haploinsufficiency of Pkd1 had greater effects on bone than partial deficiency of Kif3a.

To circumvent this problem, we generated incremental deletions of Smad1 and Smad5 to achieve a partial deficiency of BMP signaling in chondrocytes.

Mice with a partial deficiency in Pol β expression (Pol β heterozygote mice) have an elevated mutant frequency in male germ cells [27] and a small increase in the incidence of lymphoid hyperplasia and adenocarcinoma [56].