Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Pulmonary function abnormalities in type I Gaucher disease

E Kerem1, D Elstein, A Abrahamov

  • 1Dept of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel.

The European Respiratory Journal
|February 1, 1996
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA-related Parkinson's disease.

European journal of neurology·2019
Same author

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.

Blood cells, molecules & diseases·2017
Same author

Treatment patterns from 647 patients with Gaucher disease: An analysis from the Gaucher Outcome Survey.

Blood cells, molecules & diseases·2016
Same author

Anthropometric adjustments are helpful in the interpretation of BMD and BMC Z-scores of pediatric patients with Prader-Willi syndrome.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2016
Same author

Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease.

Blood cells, molecules & diseases·2012
Same author

Mandibular and dental manifestations of Gaucher disease.

Oral diseases·2012
Same journal

Decoding the Lymphangioleiomyomatosis (LAM) Niche Microenvironment <i>via</i> Integrative Analysis of Single Cell Multiomics and Spatial Transcriptomics.

The European respiratory journal·2026
Same journal

ERS Statement on ultrasound guided interventions in respiratory disease.

The European respiratory journal·2026
Same journal

Clinical Practice Guideline for the diagnosis of Granulomatous-Lymphocytic Interstitial Lung Disease (GLILD) in patients with Common Variable Immunodeficiency Disorders (CVID) - an ERS Clinical Research Collaboration.

The European respiratory journal·2026
Same journal

Bridging the airway microbiome and targeted therapy in bronchiectasis: multi-omics insights, endotypes and emerging therapies.

The European respiratory journal·2026
Same journal

Progressive pulmonary fibrosis: a state-of-the-art review.

The European respiratory journal·2026
Same journal

ERS statement: Core outcome set for trials evaluating the management of community-acquired and nosocomial pneumonia in adults.

The European respiratory journal·2026
See all related articles

Pulmonary function abnormalities are common in type I Gaucher

Area of Science:

  • Pulmonary Medicine
  • Genetics
  • Rare Diseases

Background:

  • Gaucher's disease is a rare genetic disorder.
  • Pulmonary involvement in Gaucher's disease is not fully understood.

Purpose of the Study:

  • To determine the prevalence of pulmonary abnormalities in type I Gaucher's disease.
  • To analyze the relationship between pulmonary involvement and genotype and clinical severity.

Main Methods:

  • Prospective evaluation of 95 type I Gaucher's disease patients.
  • Pulmonary function tests, chest radiography, clinical assessment, and genotype analysis were performed.

Main Results:

  • 68% of patients had pulmonary function abnormalities, including reduced lung volumes and diffusion capacity.

Related Experiment Videos

  • Males showed a higher incidence of reduced expiratory flow.
  • Abnormal pulmonary function correlated with a higher clinical severity score.

    • Conclusions:

    • Abnormal pulmonary function is prevalent in type I Gaucher's disease.
    • Airway obstruction, reduced lung volumes, and diffusion abnormalities are common.
    • Further research is needed to determine the progression and clinical significance of pulmonary involvement.