Evidence map›Paper›PMID 39185019›Full record

ArticleMolecular genetics and metabolism reports2024

Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series.

Hedyeh Saneifard, Marjan Shakiba, Mohammadreza Alaei, Asieh Mosallanejad, Shirin Ghanefard, Mehrdad Yasaei, Kimia Karimi Toudeshki

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Article in Molecular genetics and metabolism reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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0cells of the map it votes in
1citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Hedyeh SaneifardDepartment of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Marjan ShakibaDepartment of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mohammadreza AlaeiDepartment of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Asieh MosallanejadDepartment of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Shirin GhanefardDepartment of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Mehrdad YasaeiDepartment of Pediatric Endocrinology and Metabolic Diseases, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Kimia Karimi ToudeshkiSchool of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Niemann Pick Type C disease is a rare and progressive neurodegenerative lysosomal storage disorder caused by autosomal recessive mutations in the NPC1 and NPC2 genes. It is characterized by the accumulation of multiple lipid species in the endolysosomal compartment, leading to neurodegeneration and involvement of the liver, spleen, and lungs. Niemann Pick Type C has a wide range of presentations and severities at different ages with different progression rates. According to the Human Gene Mutation Database, to date, 486 disease-causing mutations in the highly polymorphic NPC1 gene and >20 mutations in the NPC2 have been reported. In the present study, we described the clinical, biochemical, and molecular profiles of 18 Iranian patients with Niemann-Pick Type C disease. Also, we describe six novel variants of the NPC1 gene, to our knowledge, not reported to date

Indexed as

Clinical presentationLysosomal storage disorderNiemann-pick type CNPC1 gene variants

Identifiers

PMID39185019
PMCPMC11342110

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