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

Niemann-Pick type A disease with new mutation: a case report.

Journal of medical case reports - 27 Jul 2022

Aghamahdi Fatemeh, Nirouei Matineh, Savad Shahram

Abstract excerpt

BACKGROUND: Niemann-Pick type A (NP-A) is a congenital, hereditary disease caused by a deficiency in acid sphingomyelinase, a lysosomal enzyme. This deficiency results in an accumulation of sphingomyelin in lysosomes, leading to cellular apoptosis and ultimately to hepatosplenomegaly, neurodegenerative disorder and failure to thrive. Cherry-red spots in the macula and foamy cells in the bone marrow are other...

Read the complete abstract on PubMed

Topics

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

Share to Exons
Share to Hepatomegaly
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Muscle Hypotonia

Share to Niemann-Pick Diseases

Share to Sphingomyelin Phosphodiesterase

Share to Splenomegaly

Source

Open in PubMed Open full text

Identifiers

PMID: 35883096
DOI: 10.1186/s13256-022-03486-5
PMCID: PMC9327407

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Niemann-Pick type A disease with new mutation: a case report.PMID 35883096Read ↗

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old PatientSemantic proximity Read ↗

Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.Semantic proximity Read ↗

Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.Semantic proximity Read ↗

R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease.Semantic proximity Read ↗

Three-years misdiagnosis of Niemann Pick disease type B with novel mutations in SMPD1 gene as Budd-Chiari syndrome.Semantic proximity Read ↗

Types A and B Niemann-Pick disease.Semantic proximity Read ↗

Niemann-Pick diseases.Semantic proximity Read ↗

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.Semantic proximity Read ↗

Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.Semantic proximity Read ↗

Types A and B Niemann-Pick Disease.Semantic proximity Read ↗

Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management.Semantic proximity Read ↗

Types A and B Niemann-Pick disease.Semantic proximity Read ↗

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