Article

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient

2024-07-12

Abstract excerpt

Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and adequate management due to its rarity, rapid progression, and the development of new pathogenetic therapy methods. Clinical case description. The disease manifest...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 8819311d-a7a3-5026-bfa9-306b69caef94
DOI: 10.15690/vsp.v23i3.2762

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old PatientDOI 10.15690/vsp.v23i3.2762Read

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

Niemann-Pick diseases.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

Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General PediatricianSemantic proximity Read

The Niemann-Pick type diseases – A synopsis of inborn errors in sphingolipid and cholesterol metabolismSemantic proximity Read

SMPD1 Expression Profile and Mutation Landscape Help Decipher Genotype–Phenotype Association and Precision Diagnosis for Niemann–Pick Disease Types A and BSemantic proximity Read

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

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

Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.Semantic proximity Read

Genetic analysis of two heterozygous SMPD1 variants in a pediatric Niemann-Pick disease patientSemantic proximity Read

[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].Semantic proximity Read

Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches.Semantic proximity Read