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

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

Journal of paediatrics and child health - 1 Apr 2021

Lourenço Charles M, Pessoa Andre, Mendes Carmen C, Rivera-Nieto Carolina, Vergara Diane, Troncoso Mónica, Gardner Emily, Mallorens Francisca, Tavera Lina, Lizcano Luis A, Atanacio Nora, Guelbert Norberto, Specola Norma, Mancilla Nury, de Souza Carolina F M, Mole Sara E

Abstract excerpt

AIM: Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive deterioration of neurological functions commonly occurring in children aged 2-4 years and culminating in early death. Atypical cases associated with earlier or later symptom onset, or even...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Brazil

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Lysosomal Storage Disorders Research

Share to Neuronal Ceroid-Lipofuscinoses

Share to Phenotype

Share to Tripeptidyl-Peptidase 1

Source

Open in PubMed Open full text

Identifiers

PMID: 33377563
DOI: 10.1111/jpc.15250
PMCID: PMC8049023

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.PMID 33377563Read ↗

Cerliponase alfa in the treatment of patients with classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin AmericaSemantic proximity Read ↗

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

Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.Semantic proximity Read ↗

Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.Semantic proximity Read ↗

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.Semantic proximity Read ↗

A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.Semantic proximity Read ↗

Towards understanding the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

[Clinical features of 13 children with neuronal ceroid lipofuscinosis type 2].Semantic proximity Read ↗

Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease PatientsSemantic proximity Read ↗

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

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

Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.Semantic proximity Read ↗

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