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Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.
It is demonstrated that the human SCO proteins have non-overlapping, cooperative functions in mitochondrial copper delivery, and size exclusion chromatography suggests that both the proteins function as homodimers.
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.
COX15 is established as an additional cause, along with SCO2, of fatal infantile, hypertrophic cardiomyopathy associated with isolated COX deficiency, and results suggest that reduced availability of heme A stalls the assembly of COX.
Exome Sequencing and the Management of Neurometabolic Disorders.
Deep phenotyping and whole-exome sequencing in 41 probands with intellectual developmental disorder and unexplained metabolic abnormalities led to a diagnosis in 68%, the identification of 11 candidate genes newly implicated in neurometabolic disease, and a change in treatment beyond genetic counseling in 44%.
Estimating pediatric glomerular filtration rates in the era of chronic kidney disease staging.
The results suggest that if local laboratory constants are derived and a height is known, then the Schwartz formula offers the most accuracy with least mathematical complexity to perform in the clinical setting and the British Columbia's Children's Hospital 2 formula is of value.
Lead and mercury exposures: interpretation and action
There is a need for a clear and consistent guide to help clinicians interpret laboratory investigations, and this work offers a guide, with information about population norms, lead and mercury levels that suggest exposure beyond that seen in the general population and levels that warrant referral for advice about clinical management.
A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy.
Soluble interleukin-2 receptor is a sensitive diagnostic test in adult HLH.
Serum sIL-2r is a sensitive test for diagnosis of adult HLH, but is not as specific as previously reported in children.