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

R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.

Croatian medical journal - 1 Aug 2003

Barisić Nina, Logan Peter, Pikija Slaven, Skarpa Drago, Blau Nenad

Abstract excerpt

Clinical picture of neuronal ceroid lipofuscinosis with late infantile onset (LINCL) is characterized by myoclonic seizures and psychomotor regression. We present a case of classic LINCL and reduced cerebrospinal fluid (CSF) pterins in a girl of normal psychomotor development and born to non-consanguineous parents. She first presented with febrile seizures at the age of four. At that time, brain computed...

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 Pterins

Share to Serine Proteases

Share to Tripeptidyl-Peptidase 1

Source

Identifiers

PMID: 12950156

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis.PMID 12950156Read ↗

Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.Semantic proximity Read ↗

CLN6-related continuum phenotype caused by aberrant splicing.Semantic proximity Read ↗

CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.Semantic proximity Read ↗

Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses: research update.Semantic proximity Read ↗

Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties.Semantic proximity Read ↗

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses and possible pathogenic mechanism.Semantic proximity Read ↗

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.Semantic proximity Read ↗

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