Diverse clinical spectrum of Niemann-Pick C: insights from a single center.

doi:10.1515/jpem-2026-0131

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Article

Diverse clinical spectrum of Niemann-Pick C: insights from a single center.

Journal of pediatric endocrinology & metabolism : JPEM - 25 Sept 2026

Basan Hacer, Gürbüz Berrak Bilginer, Küçükcongar Yavaş Aynur, Gündüz Mehmet, Dinçer Serpil, Engin Erdal Ayşenur, Ardiçli Didem, Cinel Güzin, Murat Öktem Rıdvan, Seher Kasapkara Çiğdem

Abstract excerpt

OBJECTIVES: Niemann-Pick disease type C (NPC) is a lysosomal lipid trafficking disorder characterized by impaired intracellular cholesterol transport, resulting in progressive neurovisceral involvement. While neurological progression has been extensively described, metabolic biomarkers and lipid abnormalities may provide earlier diagnostic clues, particularly in high-consanguinity populations. METHODS: We...

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Topics

Humans
Niemann-Pick Disease, Type C
Female
Male
Adolescent
Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Infant

Child, Preschool

Retrospective Studies

Infant, Newborn

Young Adult

Prognosis

Niemann-Pick C1 Protein

Phenotype

Vesicular Transport Proteins

Biomarkers

Follow-Up Studies

Glycoproteins

Source

Open in PubMed

Identifiers

PMID: 42324936
DOI: 10.1515/jpem-2026-0131

Genes

NPC1
NPC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 2026.

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