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Fabry Disease

Known as: CERAMIDE TRIHEXOSIDE LIPOIDOSIS FABRYS DISEASE, CERAMIDE TRIHEXOSIDE LIPOIDOSIS <FABRYS DISEASE>, fabrys disease 
A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation… 
National Institutes of Health

Related topics

Related topics

48 relations
ALPHA-D-GALACTOSIDASE ENZYMEAbdominal PainAnemiaAngina Pectoris

Broader (1)

Enzyme Deficiency

Narrower (1)

Fabry Disease, Cardiac Variant

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2005
Highly Cited
2005
Ceramide 1-Phosphate, a Mediator of Phagocytosis*
The agonist-stimulated metabolism of membrane lipids produces potent second messengers that regulate phagocytosis. We studied… 
Highly Cited
1997
Highly Cited
1997
Identification and Characterization of Saccharomyces cerevisiae Dihydrosphingosine-1-phosphate Phosphatase*
We have identified the yeast sphingosine resistance gene (YSR2) of Saccharomyces cerevisiae as encoding a protein that… 
Highly Cited
1987
Highly Cited
1987
Human plasma protein Z antigen: range in normal subjects and effect of warfarin therapy.
In contrast to the other well-studied vitamin K-dependent proteins that circulate in plasma, protein Z antigen is much more… 
Highly Cited
1986
Highly Cited
1986
Laser ultrasonic generation and optical detection with a confocal Fabry-Pérot interferometer
Highly Cited
1978
Highly Cited
1978
Blood group i and I activities of "lacto-N-norhexaosylceramide" and its analogues: the structural requirements for i-specificities.
Highly Cited
1975
Highly Cited
1975
Surface carbohydrates of hamster fibroblasts. I. Chemical characterization of surface-labeled glycosphingolipids and aspecific ceramide tetrasaccharide for transformants.
Highly Cited
1971
Highly Cited
1971
Anomeric structure of globoside and ceramide grihexoside of human erythrocytes and hamster fibroblasts.
Abstract The terminal galactosyl residue of ceramide trihexoside of human erythrocytes and BHK fibroblasts and that of the… 
Highly Cited
1968
Highly Cited
1968
The lipid composition of rat-liver plasma membranes.
Highly Cited
1959
Highly Cited
1959
The Chemistry Of Adrenochrome And Related Compounds
s 60, 5747 (1956). (100) FRANKEL, S., AND ALLERS, R.: Biochem. Z. 18,40 (1909). (101) FRIEDENWALD, J. S., MICHEL, H., AND BUSCHKE… 
Highly Cited
1949
Highly Cited
1949
Isotopic Carbon
biometry are laborious and inefficient." In their place he describes methods, admittedly crude, which serve well for exploratory… 
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