Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.

doi:10.1007/s10545-007-0557-3

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

Back to search

Article

Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child.

Journal of inherited metabolic disease - 1 Nov 2007

Fotoulaki M, Schuchman E H, Simonaro C M, Augoustides-Savvopoulou P, Michelakakis H, Panagopoulou P, Varlamis G, Nousia-Arvanitakis S

Abstract excerpt

Niemann-Pick Disease (NPD) is a heterogeneous group of autosomal recessive disorders characterized by progressive accumulation of sphingomyelin and cholesterol in lysosomes. Six types of NPD have been described based on clinical presentation and involved organs. The primary defect in NPD types A and B is a deficiency of lysosomal acid sphingomyelinase (ASM). We present a case of a 5-year-old boy with type B NPD...

Topics

Child
Cholesterol
DNA Mutational Analysis
Fibroblasts
Greece
Hexosaminidases
Humans
Lung
Lysosomes
Male
Mutation
Myocardium
Nervous System Diseases
Niemann-Pick Diseases
Sphingomyelin Phosphodiesterase
Tomography, X-Ray Computed

Source

Open in PubMed

Identifiers

PMID: 17876723
DOI: 10.1007/s10545-007-0557-3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics