Results 201 to 210 of about 234,802 (359)

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown   +6 more
wiley   +1 more source

Vitamin B12 Levels Association with Functional and Structural Biomarkers of Central Nervous System Injury in Older Adults

open access: yesAnnals of Neurology, EarlyView.
At low levels of B12, specifically when bound to transcobalamin for cellular uptake, evidence of slower conductivity in the brain could point toward impaired myelin. At high levels of B12, specifically when bound to the biologically inert transport protein haptocorrin, biomarkers of neurodegeneration appear in the serum, indicating neuroaxonal injury ...
Alexandra Beaudry‐Richard   +22 more
wiley   +1 more source

Longitudinal Metabolomics in Amyotrophic Lateral Sclerosis Implicates Impaired Lipid Metabolism

open access: yesAnnals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by altered metabolome and energy homeostasis, manifesting with body mass index changes and hypermetabolism—both prognostic of disease progression and survival.
Kai Guo   +7 more
wiley   +1 more source

Bile Acids and Steroids

open access: hybrid, 1959
Sven Lindstedt, Bengt Samuelsson
openalex   +2 more sources

Quantitative isolation and gas–liquid chromatographic analysis of total fecal bile acids

open access: yesJournal of Lipid Research, 1965
A method for isolation and quantification of fecal bile acids is described which allows sterol balance studies to be made in man or in small laboratory animals without requiring the use of radioisotopes in vivo. Bile acids are purified by column and thin-
Scott M. Grundy   +2 more
doaj  

Home - About - Disclaimer - Privacy