Results 111 to 120 of about 5,176,506 (186)

Gaucher Disease

open access: yesMedicine, 1995
D, Balicki, E, Beutler
openaire   +2 more sources

Bone, bone marrow, and MIBI scintigraphic findings in Gaucher's disease "bone crisis".

open access: yes, 2001
PURPOSE: The authors report the utility of Tc-99m MIBI imaging in Gaucher's disease, which results in the accumulation of glucocerebroside in macrophages. Inflated macrophages, or Gaucher's cells, involve the reticuloendothelial organs.
Abramowicz, Marc   +2 more
core   +1 more source

A revised fluorometric assay for Gaucher's disease using conduritol-[beta]-epoxide with liver as the source of [beta]-glucosidase

open access: yes, 1980
To date, enzymatic diagnosis of Gaucher's disease via a fluorometric assay procedure which utilizes 4-methylumbelliferyl-[beta]--glucopyranoside as a substrate has not been possible when liver serves as the source of enzyme since currently employed ...
Daniels, Lydia B.   +3 more
core   +1 more source

Skin lipid abnormalities in Gaucher's disease

open access: yes, 2000
In the epidermis of terrestrial vertebrates stratum corneum lipids are known to play an important role as regulators of skin permeability; particularly ceramides, some of which with very long chain, hydroxy fatty acids, are important components of this ...
G. Montorfano   +5 more
core   +2 more sources

Gaucher's Disease [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1932
openaire   +2 more sources

[Indications for splenectomy in Gaucher's disease. Case report].

open access: yes, 1997
Gaucher's disease is a rare metabolic disorder characterized by the lack of beta-glucocerebrosidase enzyme. In this case report a 26-year-old male patient was, first diagnosed as having splenomegaly and a huge haemangioma, therefore managed by total ...
M. D. Paola   +4 more
core  

Impact of Gba2 on neuronopathic Gaucher's disease and α-synuclein accumulation in medaka (Oryzias latipes). [PDF]

open access: yesMol Brain, 2021
Nakanishi E   +10 more
europepmc   +1 more source

Gaucher's Disease [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1931
openaire   +2 more sources

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