ReviewInternational journal of molecular sciences2019
Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.
Review in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).Orphanet journal of rare diseases · 2023Guideline
- Respiratory manifestations as clues to inherited metabolic disorders in children: a phenotype-driven diagnostic approach.European journal of pediatrics · 2026Review
- Beyond Upper Airway Involvement: Evidence of Intrinsic Lung Disease in a Mouse Model of Mucopolysaccharidosis I.Journal of inherited metabolic disease · 2026Article
- CTSO and HLA-DQA1 as biomarkers in sepsis-associated ARDS: insights from RNA sequencing and immune infiltration analysis.BMC infectious diseases · 2025Article
- Article
- Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management.Children (Basel, Switzerland) · 2024Review
- Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease.Frontiers in cardiovascular medicine · 2024Review
- Clinical and biochemical footprints of inherited metabolic diseases. XIII. Respiratory manifestations.Molecular genetics and metabolism · 2023Review
- Article
- Endolysosomal Cation Channels and Lung Disease.Cells · 2022Review
- Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis.Frontiers in cardiovascular medicine · 2022Review
- Review
- Interstitial lung disease in lysosomal storage disorders.European respiratory review : an official journal of the European Respiratory Society · 2021Article
- Fabry disease: what the cardiologist should consider in non-cardiac screening, diagnosis, and management-narrative review.Cardiovascular diagnosis and therapy · 2021Review
- Pulmonary Involvement Responsive to Enzyme Replacement Therapy in an Elderly Patient with Gaucher Disease.European journal of case reports in internal medicine · 2021Article
- Respiratory failure and sleep-disordered breathing in late-onset Pompe disease: a narrative review.Journal of thoracic disease · 2020Review
- Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B).The American journal of case reports · 2020Article
- Macroglossia, Motor Neuron Pathology, and Airway Malacia Contribute to Respiratory Insufficiency in Pompe Disease: A Commentary on Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.International journal of molecular sciences · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 the different types of respiratory manifestations in LSD, with particular attention being paid to the main molecular pathways known so far to be involved in the pathogenesis of the disease. A literature search was conducted using the Medline/PubMed and EMBASE databases to identify studies, from 1968 through to November 2018, that investigated the respiratory manifestations and molecular pathways affected in LSD. Pulmonary involvement includes interstitial lung disease in Gaucher's disease and Niemann-Pick disease, obstructive airway disease in Fabry disease and ventilatory disorders with chronic respiratory failure in Pompe disease due to diaphragmatic and abdominal wall muscle weakness. In mucopolysaccharidosis and mucolipidoses, respiratory symptoms usually manifest early in life and are secondary to anatomical malformations, particularly of the trachea and chest wall, and to accumulation of glycosaminoglycans in the upper and lower airways, causing, for example, obstructive sleep apnea syndrome. Although the molecular pathways involved vary, ranging from lipid to glycogen and glycosaminoglycans accumulation, some clinical manifestations and therapeutic approaches are common among diseases, suggesting that lysosomal storage and subsequent cellular toxicity are the common endpoints.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.