ABSTRACT In medically complex patients with chronic pain, new or worsening symptoms should prompt careful reassessment. Avascular necrosis, particularly in the setting of prolonged steroid use, may be overlooked due to diagnostic overshadowing. Timely recognition requires multidisciplinary collaboration and vigilance to distinguish acute pathology from
Ji‐Hoon Lee +3 more
wiley +1 more source
Type 3 Gaucher’s disease in a three year old child: saccadic eye movements analysis
Gaucher’s disease (GD) is an autosomal-recessive disorder that leads to the storage of sphingolipid material (glucocerebroside) in different peripheral tissues and sometimes in the central nervous system. Among its 3 existing forms, the most frequent non-
ACCARDO, AGOSTINO +3 more
core
Novel Management and Screening Approaches for Haematological Complications of Gaucher's Disease. [PDF]
Giraldo P, Andrade-Campos M.
europepmc +1 more source
Cardiopulmonary assessment of patients diagnosed with Gaucher's disease type I. [PDF]
Bjelobrk M +7 more
europepmc +1 more source
Rare Case of Gaucher's Disease Presenting as a Solitary Swelling of the Proximal Tibia Mimicking a Musculoskeletal Tumor in an Adult: A Case Report. [PDF]
Rahman SH +5 more
europepmc +1 more source
Saccadic analysis for early identification of neurological involvement in Gaucher’s disease
The early identification of a neurological involvement in Gaucher’s Disease (GD) is essential for a correct dosage of the enzymatic therapy. The saccadic eye movement characteristics of 15 patients affected by the non-neurological GD form shown normal ...
ACCARDO, AGOSTINO +2 more
core
Pre- and post-therapeutic evaluation of liver and spleen in type I and type III Gaucher's disease using diffusion tensor imaging. [PDF]
Alnaghy E, Razek AA, Abdelhalim E.
europepmc +1 more source
Where Is the ‘Oma’ in Multiple Myeloma? Origins and Limitations of some Myeloma‐Related Terminology
ABSTRACT Background Multiple myeloma, often simply called ‘myeloma’, is a clonal plasma cell malignancy that constitutes about one‐tenth of all cancers managed by haematologists. Although the disease was first clearly described in the first half of the 19th century, it was only called multiple myeloma several decades later.
Jecko Thachil, David P. Steensma
wiley +1 more source
A Lysosomal Lair for a Pathogenic Protein Pair
An unexpected link between Parkinson’s disease and Gaucher’s disease is explained at the molecular level.
Valina L. Dawson, Ted M. Dawson
core +1 more source
Gaucher's disease: report of 11 cases with review of literature
Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease and to
Laila Essabar +5 more
doaj +1 more source

