Gaucher disease epidemiology and natural history: a comprehensive review of the literature
L Nalysnyk, P Rotella, JC Simeone, A Hamed… - …, 2017 - Taylor & Francis
Objectives: The objectives of this research were:(1) to heighten awareness of Gaucher
disease (GD), a rare lysosomal storage disorder with highly heterogeneous patterns of …
disease (GD), a rare lysosomal storage disorder with highly heterogeneous patterns of …
Gaucher disease
A Nagral - Journal of clinical and experimental hepatology, 2014 - Elsevier
Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide.
It should be considered in any child or adult with an unexplained splenohepatomegaly and …
It should be considered in any child or adult with an unexplained splenohepatomegaly and …
An overview on bone manifestations in Gaucher disease.
P Mikosch, D Hughes - Wiener Medizinische Wochenschrift (1946), 2010 - europepmc.org
Gaucher disease (GD), the most prevalent lysosomal storage disorder, affects multiple organ
systems. Patients with non-neuronopathic (type 1) GD, the most common form of GD …
systems. Patients with non-neuronopathic (type 1) GD, the most common form of GD …
[HTML][HTML] Therapeutic approaches to bone pathology in Gaucher disease: past, present and future
O Goker-Alpan - Molecular genetics and metabolism, 2011 - Elsevier
Enzyme replacement therapy (ERT) is effective for the treatment of the systemic
manifestations of Gaucher disease (GD) and can have a significant impact on skeletal …
manifestations of Gaucher disease (GD) and can have a significant impact on skeletal …
Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3)
NJ Weinreb, DN Finegold, E Feingold, Z Zeng… - Orphanet journal of rare …, 2015 - Springer
Background GD1-DS3 is an integrated assessment of type 1 Gaucher disease (GD1) burden
based on bone, hematologic and visceral domains. We investigated this disease severity …
based on bone, hematologic and visceral domains. We investigated this disease severity …
Ferritinemia during type 1 Gaucher disease: mechanisms and progression under treatment
A Mekinian, J Stirnemann, N Belmatoug… - Blood Cells, Molecules …, 2012 - Elsevier
BACKGROUND: Earlier results highlighted hyperferritinemia during type-1 Gaucher disease
(GD), but its potential mechanisms and long-term progression remained unexamined …
(GD), but its potential mechanisms and long-term progression remained unexamined …
Long term follow-up of 103 untreated adult patients with type 1 Gaucher disease
T Dinur, A Zimran, M Becker-Cohen, D Arkadir… - Journal of Clinical …, 2019 - mdpi.com
The introduction of disease-specific therapy for patients with type I Gaucher disease (GD1)
was a revolution in the management of patients, but not without cost. Thus, the management …
was a revolution in the management of patients, but not without cost. Thus, the management …
Current and future treatments of secondary osteoporosis
R Soriano, S Herrera, X Nogués… - Best Practice & Research …, 2014 - Elsevier
Osteoporosis is commonly associated with menopause and ageing. It can, however, also be
caused by diseases, lifestyle, genetic diseases, drug therapies and other therapeutic …
caused by diseases, lifestyle, genetic diseases, drug therapies and other therapeutic …
Protein kinase Cα (PKCα) regulates bone architecture and osteoblast activity
GL Galea, LB Meakin, CM Williams… - Journal of Biological …, 2014 - ASBMB
Bones' strength is achieved and maintained through adaptation to load bearing. The role of
the protein kinase PKCα in this process has not been previously reported. However, we …
the protein kinase PKCα in this process has not been previously reported. However, we …
Gaucher disease and bone
P Mikosch - Best practice & research clinical rheumatology, 2011 - Elsevier
Gaucher disease (GD) is an inherited lysosomal storage disorder affecting multiple organs.
Non-neuronopathic GD, the most common form, can present with hepatosplenomegaly …
Non-neuronopathic GD, the most common form, can present with hepatosplenomegaly …