Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic and Biochemical Evidence That CESD and Wolman Disease Are Distinguished by Residual Lysosomal Acid Lipase Activity

1 Apr 1996

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium signaling and nucleotide metabolism
Share to Cellular transport and secretion
Share to Lysosomal Storage Disorders Research

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8617513
DOI: 10.1006/geno.1996.0162

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic and Biochemical Evidence That CESD and Wolman Disease Are Distinguished by Residual Lysosomal Acid Lipase ActivityPMID 8617513Read ↗

Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.Semantic proximity Read ↗

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.Semantic proximity Read ↗

[Acid lipase deficiency (Wolman disease and cholesteryl ester storage disease: CESD)].Semantic proximity Read ↗

Lysosomal acid lipase: a pivotal enzyme in the pathogenesis of cholesteryl ester storage disease and Wolman disease.Semantic proximity Read ↗

Lysosomal acid lipase A and the hypercholesterolaemic phenotype.Semantic proximity Read ↗

[Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease].Semantic proximity Read ↗

New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.Semantic proximity Read ↗

Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease.Semantic proximity Read ↗

Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.Semantic proximity Read ↗

Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.Semantic proximity Read ↗

Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients.Semantic proximity Read ↗

Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.