, 2012 Gaucher’s disease (GD) is an autosomal recessive lysosomal storage disorder which is caused by a mutation in the gene encoding acid β-glucocerebrosidase (GBA, EC 3.2.1.45).
Jack, Alexandria Taylor
core
Type 1 Gaucher's Disease. A Rare Genetic Lipid Metabolic Disorder Whose Diagnosis Was Concealed by Recurrent Malaria Infections in a 12-Year-Old Girl. [PDF]
J Blood MedMitala Y +6 more
europepmc +1 more source
Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease. [PDF]
Clin Cases Miner Bone Metab, 2017 Demirci U, Çizmecioglu A, Aydogdu I.
europepmc +1 more source
Vestibular and Saccadic Abnormalities in Gaucher's Disease. [PDF]
JIMD Rep, 2014 Chen L, Halmagyi GM, Todd MJ, Aw ST.
europepmc +1 more source
Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned? [PDF]
Int J Mol Sci, 2017 Santos DM, Tiscornia G.
europepmc +1 more source
An unusual form of Gaucher’s disease: pulmonary and cardiovascular involvement and cholelitiasis
Open Medicine, 2010 Ceyhan Meltem +3 more
doaj +1 more source
A Comparison of Ultrasonography, Computerised Tomography, and Conventional MRI Findings for Splenic Nodules Associated with Type 1 Gaucher's Disease with Diffusion-Weighted MRI Findings. [PDF]
Malays J Med Sci, 2017 Albayrak E +4 more
europepmc +1 more source
The human brain is a complex and finely tuned organ, constantly monitored and maintained by its resident immune cells.Among these, microglia are the primary regulators of the brain immune environment under physiological conditions, and monocyte-derived ...
Tampe, Juliane
core
GAUCHER'S DISEASE AND SPLENECTOMY
The Turkish Journal of Gastroenterology, 1993 Vedat KIRIMLIOĞLU +4 more
doaj