Related Experiment Videos
Genetic variants of hexosaminidase deficiency
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Stored dolichyl pyrophosphoryl oligosaccharides in Batten disease.
American journal of medical genetics·1992
Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis).
The Biochemical journal·1991
Recent biochemical and genetic advances in our understanding of Batten's disease (ceroid-lipofuscinosis).
Developmental neuroscience·1991
Analysis of dolichyl pyrophosphoryl oligosaccharides in purified storage cytosomes from ovine ceroid-lipofuscinosis.
Biochimica et biophysica acta·1989
A high-performance liquid chromatography method for the analysis of picomole amounts of oligosaccharides.
Analytical biochemistry·1989
Glycoconjugates in storage cytosomes from ceroid-lipofuscinosis (Batten's disease) and in lipofuscin from old-age brain.
Advances in experimental medicine and biology·1989
DNA homology and chromosome stability: a sensitive yeast genetic system for identifying double-stranded DNA damage.
Progress in clinical and biological research·2018
Interaction of lipopolysaccharide with a mammalian lyso-phosphatidate acyltransferase (LPAAT) transfected into E. coli, and effect of lisofylline on LPAAT transfected into mammalian cells.
Progress in clinical and biological research·1998
The molecular basis for therapeutic concepts utilizing CD14.
Progress in clinical and biological research·1998
Endotoxin tolerance alters macrophage membrane regulatory G proteins.
Progress in clinical and biological research·1998
Molecular mechanisms responsible for endotoxin tolerance.
Progress in clinical and biological research·1998
Antibiotic-mediated release of endotoxin and the pathogenesis of gram-negative sepsis.
Progress in clinical and biological research·1998
[Autism - Phenotypic variability].
Medicina·2026
Two Novel Compound Heterozygous CDH23 Mutations Underlying Non-Syndromic Hearing Loss.
International journal of general medicine·2026
Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.
Molecular genetics & genomic medicine·2026