Discover Community Create You

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

An Australasian diagnostic service for the neuronal ceroid lipofuscinoses.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2001

Muller V J, Paton B C, Fietz M J

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a family of related genetic disorders that together are believed to affect one child in every 12,500 births in the USA. Our laboratory has developed a diagnostic service for classical late infantile neuronal ceroid lipofuscinosis (LINCL) by assay of tripeptidyl-peptidase I (TPP-I) activity using the fluorogenic peptide substrate Ala-Ala-Phe aminomethylcoumarin,...

Read the complete abstract on PubMed

Topics

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

Share to Aminopeptidases
Share to Dipeptidyl-Peptidases and Tripeptidyl-Peptidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endopeptidases

Share to Neuronal Ceroid-Lipofuscinoses

Share to Peptide Hydrolases

Share to Serine Proteases

Share to Thiolester Hydrolases

Share to Tripeptidyl-Peptidase 1

Source

Identifiers

PMID: 11588997
DOI: 10.1053/eipn.2000.0462

Genes

CLN3
NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An Australasian diagnostic service for the neuronal ceroid lipofuscinoses.PMID 11588997Read ↗

Neuronal ceroid lipofuscinoses: research update.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Neuronal ceroid lipofuscinosis: detection of atypical forms.Semantic proximity Read ↗

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in ItalySemantic proximity Read ↗

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 diseaseSemantic proximity Read ↗

The Neuronal Ceroid‐Lipofuscinoses. Recent AdvancesSemantic proximity Read ↗

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.Semantic proximity Read ↗

Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.Semantic proximity Read ↗

Molecular genetic testing for neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia.Semantic proximity Read ↗

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