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 integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.

Clinical genetics - 1 Oct 2009

Kohan R, Cismondi I A, Kremer R Dodelson, Muller V J, Guelbert N, Anzolini V Tapia, Fietz M J, Ramírez A M Oller, Halac I Noher

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a family of progressive neurodegenerative diseases that are characterized by the cellular accumulation of ceroid lipofuscin-like bodies. NCL type 1 (CLN1) and type 2 (CLN2) are caused by deficiencies of the lysosomal enzymes palmitoyl-protein thioeste...

Read the complete abstract on PubMed

Topics

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

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hispanic or Latino

Share to Neuronal Ceroid-Lipofuscinoses

Share to Serine Proteases

Share to Thiolester Hydrolases

Share to Tripeptidyl-Peptidase 1

Source

Identifiers

PMID: 19793312
DOI: 10.1111/j.1399-0004.2009.01214.x

Genes

NCL
TPP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19793312-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.PMID 19793312Read ↗

Neuronal ceroid lipofuscinoses: classification and diagnosis.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2).Semantic proximity Read ↗

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.Semantic proximity Read ↗

Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).Semantic proximity Read ↗

The neuronal ceroid-lipofuscinoses.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses: research update.Semantic proximity Read ↗

Molecular genetics of the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Management of CLN1 Disease: International Clinical Consensus.Semantic proximity Read ↗

Towards understanding the neuronal ceroid lipofuscinoses.Semantic 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 ↗

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

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