Interstitial lung disease in lysosomal storage disorders

R Borie, B Crestani, A Guyard… - European Respiratory …, 2021 - Eur Respiratory Soc
Lysosomes are intracellular organelles that are responsible for degrading and recycling
macromolecules. Lysosomal storage diseases (LSDs) are a group of inherited diseases …

Pulmonary involvement in selected lysosomal storage diseases and the impact of enzyme replacement therapy: A state‐of‐the art review

A Jezela‐Stanek… - The Clinical …, 2020 - Wiley Online Library
Lysosomal storage disorders (LSDs) are multisystemic, progressive and clinically very
heterogeneous. Respiratory complications are not regarded as the principal problems of …

Molecular pathways and respiratory involvement in lysosomal storage diseases

P Faverio, A Stainer, F De Giacomi, S Gasperini… - International journal of …, 2019 - mdpi.com
Lysosomal storage diseases (LSD) include a wide range of different disorders with variable
degrees of respiratory system involvement. The purpose of this narrative review is to treat …

[HTML][HTML] Lysosomal storage disease overview

A Sun - Annals of translational medicine, 2018 - ncbi.nlm.nih.gov
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are
caused for the most part by enzyme deficiencies within the lysosome resulting in …

Treatable lysosomal storage diseases in the advent of disease‐specific therapy

H Peters, C Ellaway, K Nicholls… - Internal Medicine …, 2020 - Wiley Online Library
Lysosomal storage diseases (LSD) comprise a rare and heterogeneous group of nearly 50
heritable metabolic disorders caused by mutations in proteins critical for cellular lysosomal …

Increased lung surfactant phosphatidylcholine in patients affected by lysosomal storage diseases

R Buccoliero, S Palmeri, G Ciarleglio… - Journal of inherited …, 2007 - Springer
Sandhoff disease, Gaucher disease type I and sialidosis type I are lysosomal storage
disorders caused, respectively, by deficiency of activity of β-hexosaminidase (storage of GM …

AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement

F Nascimbeni, CD Vici, UV Gentilucci… - Digestive and Liver …, 2020 - Elsevier
Lysosomal storage diseases (LSDs) are a heterogeneous group of inherited disorders
caused by loss-of-function mutations in genes encoding for lysosomal enzymes/proteins …

Lysosomal storage disorders affecting the heart: a review

V Nair, EC Belanger, JP Veinot - Cardiovascular Pathology, 2019 - Elsevier
Lysosomal storage disorders (LSD) comprise a group of diseases caused by a deficiency of
lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology …

Rheumatologic aspects of lysosomal storage diseases

B Manger, E Mengel, RM Schaefer - Clinical rheumatology, 2007 - Springer
Lysosomal storage diseases are rare metabolic disorders, some of which can now be
treated using enzyme replacement therapies. Because the time point of treatment initiation …

[HTML][HTML] History of lysosomal storage diseases: an overview

A Mehta, M Beck, A Linhart… - … : perspectives from 5 …, 2006 - ncbi.nlm.nih.gov
Lysosomal storage diseases (LSDs) comprise a group of related conditions characterized by
inappropriate lipid storage in lysosomes, due to specific enzyme deficiencies. Gaucher …