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A Case with Neonatal-onset Type 2 Neuronal Ceroid Lipofuscinosis: A Novel Mutation.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 May 2020

Uygur Ozgun, Oncel Mehmet Yekta, Gencpinar Pinar, Guvenc Merve Saka, Dundar Nihal Olgac

Abstract excerpt

Neuronal ceroid lipofuscinosis (NCL) is a lysosomal storage disorder that causes progressive neurodegenerative disease as a result of storage in neurons and other cells. Late infantile type (NCL Type 2) of NCL, which is the most common neurodegenerative disease in childhood, is characterised by a homozygous mutation in the tripeptidyl peptidase-1 (TPP-1) gene. A male infant was referred to our neonatal intensive...

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PMID: 32580858
DOI: 10.29271/jcpsp.2020.05.543

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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