Niemann–Pick disease is a rare autosomal recessive lysosomal storage disease with three
subtypes. Types A and B result from a deficiency of acid sphingomyelinase activity …

Key points Presentation of ILD is very non-specific. Imaging, especially HRCT, confirms the
presence of ILD, but is rarely diagnostic. Invasive diagnosis is almost always needed …

Objective: To analyze HRCT findings in patients with Niemann-Pick disease (NPD) type B, in
order to determine the frequency of HRCT patterns and their distribution in the lung …

Multiple cystic lung disease (MCLD) is a rare condition consisting of multiple, usually round,
parenchymal lucencies of low-attenuating area with wall thickness less than 2 mm. The most …

Niemann-Pick disease type B is caused by a deficiency in acid sphingomyelinase activity;
among the six variants of Niemann-Pick disease known to date, it is the most frequently …

Abstract Background Pulmonary involvement in Niemann-Pick disease (NPD) is a common
finding, especially in type B. It usually manifests with symptoms of restrictive lung disease …

Inborn errors of metabolism (IEMs) whilst individually rare, as a group constitute a field
which is increasingly demands on pulmonologists. With the advent of new therapies such as …

Advances in technology, methodology, and deep phenotyping are increasingly driving the
understanding of the pathologic basis of disease. The resultant improvements in patient …

Background: Types A and B Niemann-Pick disease (NPD) are autosomal-recessive
lysosomal storage disorders caused by the deficient activity of acid sphingomyelinase due to …

Objective: Rare disease Background: Niemann-Pick disease is a rare genetic disorder
caused by mutations in sphingomyelin phosphodiesterase 1 gene. It results in acid …