Related Experiment Videos
Sphingomyelinase defect in Niemann-Pick disease, type C, fibroblasts
FEBS Letters
|August 1, 1977
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.
Journal of inherited metabolic disease·2001
Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.
Journal of medical genetics·2000
Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease.
Journal of lipid research·2000
Generalised uridine diphosphate galactose-4-epimerase deficiency.
Archives of disease in childhood·1999
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.
Nature genetics·1997
Epigenetic reprogramming of lineage switching in cancer.
FEBS letters·2026
The microbiome in human skin aging.
FEBS letters·2026
Iatrogenic Nerve Injuries Affecting Upper Limb Function: Medicolegal Implications.
Journal of hand surgery global online·2026
Enabling technologies for neural and biofluid interfaces: biocompatible materials with potential for neurodegenerative disease applications.
Biomedical engineering letters·2026
A Combined Deep Learning Approach to Screen Patients for Neuromuscular Pathology.
Ultrasound in medicine & biology·2026
Armillariella tabescens polysaccharide targets microglial glycolysis to alleviate sleep deprivation-induced neuroinflammation through the mTOR signaling pathway.
Phytomedicine : international journal of phytotherapy and phytopharmacology·2026