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

Neuropsychological and behavioral disorders as presentation symptoms in two brothers with early-infantile Niemann-Pick type C.

Acta bio-medica : Atenei Parmensis - 7 Sept 2020

Soliani Luca, Salerno Grazia Gabriella, Pisani Francesco, Barigazzi Ilaria, Rizzi Susanna, Spagnoli Carlotta, Frattini Daniele, Zangrandi Andrea, Fusco Carlo

Abstract excerpt

BACKGROUND: Niemann-Pick disease type C (NPC) is a lysosomal storage disease caused by mutations in NPC1 or NPC2 genes. CASE PRESENTATION: We present two brothers with the same compound heterozygous variants in exon 13 of the NPC1 gene (18q11.2), the first one (c.1955C> G, p. Ser652Trp), inherited from the mother, the second (c.2107T>A p.Phe703Ile) inherited from the father, associated to the classical...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Mental Disorders

Share to Mutation

Share to Niemann-Pick Disease, Type C

Share to Phenotype

Share to Siblings

Source

Open in PubMed Open full text

Identifiers

PMID: 32921771
DOI: 10.23750/abm.v91i3.9272
PMCID: PMC7716979

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Neuropsychological and behavioral disorders as presentation symptoms in two brothers with early-infantile Niemann-Pick type C.PMID 32921771Read ↗

Disease and patient characteristics in NP-C patients: findings from an international disease registry.Semantic proximity Read ↗

Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.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 ↗

Clinical disease characteristics of patients with Niemann-Pick Disease Type C – findings from the International Niemann-Pick Disease Registry (INPDR)Semantic proximity Read ↗

Clinical, genotypic, and neuropsychological profile in a series of cases of patients with Niemann-Pick type C diseaseSemantic proximity Read ↗

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

The adult form of Niemann-Pick disease type C.Semantic proximity Read ↗

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.Semantic proximity Read ↗

[Niemann-Pick type C disease: From neonatal cholestasis to neurological degeneration. Different phenotypes].Semantic proximity Read ↗

Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale.Semantic proximity Read ↗

Niemann-Pick disease type C: analysis of 7 patients.Semantic proximity Read ↗

Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience.Semantic proximity Read ↗

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