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Overview

Gaucher disease

A genetically determined (autosomal recessive) disease resulting from the deposition of glucocerebrosides (see cerebroside) in the brain and other tissues (especially bone). It results in ...

Gaucher disease

Gaucher disease   Quick reference

A Dictionary of Genetics (8 ed.)

Reference type:
Subject Reference
Current Version:
2014
Subject:
Science and technology, Life Sciences
Length:
307 words

...by amniocentesis. Adjacent to the Gaucher disease gene is a pseudogene that also contains 11 exons. In the regions present in both sequences, 96% of the nucleotides are identical. The pseudogene is smaller because of large deletions in four of the introns and small deletions in two of the exons. Some alleles responsible for Gaucher disease symptoms appear to have arisen by rearrangements between the structural gene and the pseudogene. The first description of the disease was published in 1882 by Dr. Philippe Gaucher, hence the eponym. See Appendix C ,...

Gaucher's disease

Gaucher's disease   Reference library

Oxford Dictionary of Biochemistry and Molecular Biology (2 ed.)

Reference type:
Subject Reference
Current Version:
2008
Subject:
Science and technology, Life Sciences
Length:
110 words

...'s disease an autosomal recessive lysosomal storage disease characterized by glucosylceramide accumulation, especially in macrophages in spleen, bone marrow, and liver, with splenomegaly and bone lesions. Type 1 is the commonest, does not affect the nervous system (i.e. is non‐neuronopathic), and is frequently diagnosed in adulthood. Type 2 is acute, neuronopathic, and usually fatal in the first two years of life. Type 3 is subacute, neuronopathic, and associated with mental retardation. Numerous mutations in the gene at 1q31 result in various degrees of...

Gaucher’s disease

Gaucher’s disease n.   Quick reference

A Dictionary of Nursing (8 ed.)

Reference type:
Subject Reference
Current Version:
2021
Subject:
Medicine and health
Length:
54 words

...’s disease [goh- shayz ] n. a genetically determined disease, inherited as a recessive condition, resulting from the deposition of fatty compounds in the brain and other tissues (especially bone). It results in learning disability, abnormal limb posture and spasticity, and difficulty with swallowing. [ P. C. E. Gaucher ( 1854–1918 ), French...

Gaucher’s disease

Gaucher’s disease   Quick reference

Concise Medical Dictionary (10 ed.)

Reference type:
Subject Reference
Current Version:
2020
Subject:
Medicine and health, Clinical Medicine
Length:
70 words

...’s disease a genetically determined (autosomal recessive ) disease resulting from the deposition of glucocerebrosides ( see cerebroside ) in the brain and other tissues (especially bone). It results in learning disability, abnormal limb posture and spasticity, and difficulty with swallowing. Carrier detection and preimplantation genetic diagnosis are possible; enzyme replacement therapy may be used in treatment. [ P. C. E. Gaucher ( 1854–1918 ), French physician...

Gaucher’s disease

Gaucher’s disease   Quick reference

A Dictionary of Biomedicine (2 ed.)

Reference type:
Subject Reference
Current Version:
2019

...Gaucher’s disease An autosomal recessive defect of glucocerebrosidase ( β ‎-glucosidase , EC 3.2.1.45, 927 aa) that leads to the intracellular accumulation of glucosylceramide (GlcCer) particularly within cells of the mononuclear phagocyte system. These cells are the so-called ‘ Gaucher cells ’ found in most tissues. Three types of disease are recognized although the affected enzyme is the same in all: type I in which there is no neuropathological abnormality, type II in which there is acute neuronopathy and the enzyme is probably present but unstable,...

Gaucher's disease

Gaucher's disease noun   Quick reference

New Oxford American Dictionary (3 ed.)

Reference type:
English Dictionary
Current Version:
2015
Subject:
English Dictionaries and Thesauri
Length:
68 words
Gaucher's disease

Gaucher's disease noun   Quick reference

Oxford Dictionary of English (3 ed.)

Reference type:
English Dictionary
Current Version:
2015
Subject:
English Dictionaries and Thesauri
Length:
72 words
Gaucher's disease

Gaucher's disease noun   Reference library

Australian Oxford Dictionary (2 ed.)

Reference type:
English Dictionary
Current Version:
2004
Subject:
English Dictionaries and Thesauri
Length:
49 words
Gaucher disease

Gaucher disease  

A genetically determined (autosomal recessive) disease resulting from the deposition of glucocerebrosides (see cerebroside) in the brain and other tissues (especially bone). It results in mental ...
histiocytosis

histiocytosis  

Reference type:
Overview Page
n. any of a group of diseases in which there are abnormalities in certain large phagocytic cells (histiocytes) due to (1) abnormal storage of fats, as in Gaucher’s disease; (2) inflammatory ...
osteonecrosis

osteonecrosis  

Reference type:
Overview Page
n. death of bony tissue, usually adjacent to a joint surface where it is enclosed by avascular cartilage. It is usually caused by loss of blood supply (avascular necrosis) due to trauma and is a ...
storage diseases

storage diseases  

Reference type:
Overview Page
Diseases in which there is a deficiency of a lysosomal enzyme and undigested substrate for that enzyme accumulates within cells. The storage diseases are not immediately fatal, but within a few years ...
beta-glucosidase

beta-glucosidase  

Reference type:
Overview Page
1. A cytosolic enzyme (469 aa, EC 3.2.1.21) involved in the metabolism of dietary flavonoid glycosides.2. A lysosomal enzyme (glucosylceramidase, EC 3.2.1.45, 536 aa) that catalyses the breakdown of ...
lipid disorders

lipid disorders  

Reference type:
Overview Page
The major lipid disorders (lipidoses) are ones in which plasma lipid levels are abnormal, as in hyperlipidaemia, hypercholesterolaemia and chylomicron retention disease. See also apolipoprotein B; ...
chitotriosidase

chitotriosidase  

An enzyme able to hydrolyse the trisaccharide derived from chitin. Activities are greatly elevated in Gaucher's disease, in which it is used as a marker to assess whether enzyme replacement therapy ...
glucocerebroside

glucocerebroside  

Any of certain compounds related to sphingomyelins. They differ in that the phosphorylcholine seen in sphingomyelin (q.v.) is replaced by glucose. See cerebroside, Gaucher disease.
lipidosis

lipidosis  

Reference type:
Overview Page
(lipoidosis) n. ( pl. lipidoses) any disorder of lipid metabolism within the cells of the body. The brain lipidoses (see Gaucher’s disease, Hunter’s syndrome, Hurler’s syndrome, Tay-Sachs disease) ...
glucosylceramide lipidosis

glucosylceramide lipidosis  

Gaucher disease (q.v.).
saposin

saposin  

A set of small Trp-free, multifunctional glycoproteins (co-β-glucosidase, A1 activator, glucosylceramidase activator, SAP-A–D, 81 aa) derived from a single precursor, prosaposin, that act as ...
lysosomal storage disease

lysosomal storage disease  

Hereditary diseases characterized by abnormal lipid storage due to defects in lysosomal enzymes. The accumulation of the trapped intermediates of catabolism results in the cytoplasmic storage of ...

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