Bone disease in early detected Gaucher Type I disease: A case report-Reference-Cited by-同舟云学术

Bone disease in early detected Gaucher Type I disease: A case report

Published:2022-06-26 Issue:5 Volume:63 Page:414-419
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Gragnaniello Vincenza¹,Burlina Alessandro P.²,Manara Renzo³,Cazzorla Chiara¹,Rubert Laura¹,Gueraldi Daniela¹,Toniolli Ermanno⁴,Quaia Emilio⁵,Burlina Alberto B.¹

Affiliation:

1. Division of Inherited Metabolic Diseases, Department of Diagnostic Services University Hospital Padua Italy

2. Neurology Unit St Bassiano Hospital Bassano del Grappa Italy

3. Department of Neurosciences University Hospital Padua Italy

4. Department of Cardiology and Radiology St Bassiano Hospital Bassano del Grappa Italy

5. Department of Radiology University Hospital Padua Italy

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12314

Reference29 articles.

1. Revised recommendations for the management of Gaucher disease in children

2. The Gaucher Registry

3. The Clinical and Demographic Characteristics of Nonneuronopathic Gaucher Disease in 887 Children at Diagnosis

4. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

5. Gaucher Disease in Bone: From Pathophysiology to Practice

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1. Skeletal Manifestations of Gaucher's Disease: A Case Report and Literature Review;Seminars in Musculoskeletal Radiology;2024-07-29

2. Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy;International Journal of Neonatal Screening;2023-12-25