Search
Now showing items 1-3 of 3
Identification of a panel of serum protein markers in early stage of sepsis and its validation in a cohort of patients
(Elsevier, 2018-08)
Background: Sepsis is a life-threatening illness with a challenging diagnosis. Current serum biomarkers are not sensitive enough for diagnosis. With the aim of finding proteins associated with sepsis, serum protein profile ...
MMADHC Premature Termination Codons in the Pathogenesis of Cobalamin D Disorder: Potential of Translational Readthrough Reconstitution
(Elsevier, 2021-03)
Mutations in the MMADHC gene cause cobalamin D disorder (cblD), an autosomal recessive inborn disease with defects in intracellular cobalamin (cbl, vitamin B12) metabolism. CblD patients present methylmalonic aciduria ...
Are environmental risk factors for current wheeze in the International Study of Asthma and Allergies in Childhood (ISAAC) phase three due to reverse causation?
(Wiley, 2019-04)
Background: Phase Three of the International Study of Asthma and Allergies in Childhood (ISAAC) measured the global prevalence of symptoms of asthma in children. We undertook comprehensive analyses addressing risk factors ...