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The frequency of lysosomal storage diseases in The Netherlands
TLDR
The relative frequency and the birth prevalence of lysosomal storage diseases in The Netherlands based on all 963 enzymatically confirmed cases diagnosed during the period 1970–1996 is calculated.
Performance of near-infrared spectroscopy in measuring local O(2) consumption and blood flow in skeletal muscle.
TLDR
NIRS is an appropriate tool to provide information about local muscV(O(2)) and local FBF because both place and depth of the NIRS measurements reveal local differences that are not detectable by the more established, but also more global, Fick method.
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
TLDR
It is demonstrated that a lumbar puncture provides the diagnostic clue to glucose transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet.
Adipose tissue thickness affects in vivo quantitative near-IR spectroscopy in human skeletal muscle.
TLDR
The results show that ATT has a substantial confounding influence on in vivo NIRS measurements, and that it is essential to incorporate this factor into future N IRS muscle studies in order to justify comparisons between different groups.
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
Using exome sequencing, we identify SERAC1 mutations as the cause of MEGDEL syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired oxidative phosphorylation and
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.
TLDR
Evidence that a patient in this study has a primary genetic defect affecting both N- and O- glycosylation provides the first example of an inborn error of metabolism affecting the biosynthesis of core 1 mucin type O-glycans.
In vivo quantitative near‐infrared spectroscopy in skeletal muscle during incremental isometric handgrip exercise
TLDR
The results show that local muscle oxygen consumption at rest as well as during exercise at a broad range of work intensities can be measured reliably by NIRS, applied to a uniform selected subject population.
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