Sentence examples for patients compound from inspiring English sources

In certain MGS patients, compound heterozygous mutations inactivate one ORC6 allele and introduce a missense mutation in the other allele that substitutes serine for tyrosine in a conserved C-terminal helix of the Orc6 protein.

The genotype identified in the mother of our patients, compound heterozygosity for the common mutations L48S and P281L, is associated with complete loss of enzyme activity of PAH and a classical PKU phenotype [Zschocke, 2003].

The acute nature of spinal injury and the importance of timely yet complex treatment for the well-being and quality of life of these patients compound the importance of providing such care.

No appropriate written or verbal information was available for a significant number of patients, compounded limited knowledge and understanding of diabetes by healthcare professionals.

A lack of macronutrient repletion in these dementia patients, compounded by a potentially increased micronutrient need (due to alterations in metabolic pathways) could accelerate cognitive decline.

The existence of asymptomatic colonized patients compounds the difficulty of containing the spread of these organisms; containing outbreaks without active surveillance may not be possible (18 ).

The trend over the past decade of continued price escalation for devices, and the primary technology focus on cementless devices without evident incremental benefit for most patients, compounds the concern that manufacturers are excessively influencing the choice of therapies.

Earlier onset of adrenal symptoms has been reported in a patient compound heterozygote for the mild p.L141W and the severe p.V415E mutations (4).

Accordingly, our patient, compound heterozygous for a novel missense mutation (p.Arg247Pro) and a well-known nonsense mutation (p.Glu848*) [ 9], displayed a mild form.

Markedly reduced amounts of nebulin in muscle have been reported in one patient compound heterozygous for a splice site mutation and a frameshift mutation in constitutively expressed exons [ 37].

We created elements such as "gene", "protein", "patient", "compound" and a total of 15 element types sufficed to describe the clinical and biological knowledge relevant to chronic disease (see additional file 1 for a full data model XML export).