beta-Mannosidosis

Known as: beta-Mannosidosis [Disease/Finding], beta-Mannosidoses, Lysosomal beta A Mannosidosis 
An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich… (More)
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
During lysosomal acidification, proton-pump currents are thought to be shunted by a chloride ion (Cl-) channel, tentatively… (More)
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Highly Cited
2010
Highly Cited
2010
Autophagy is an intracellular degradation pathway that functions in protein and organelle turnover in response to starvation and… (More)
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Highly Cited
1999
Highly Cited
1999
Fabry disease is a disorder of glycosphingolipid metabolism caused by deficiency of lysosomal α–galactosidase A (α–Gal A… (More)
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1998
1998
Human beta-mannosidosis is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme beta… (More)
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1995
1995
The high resolution crystal structure of human lysosomal aspartylglucosaminidase (AGA) has been determined. This lysosomal enzyme… (More)
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1991
1991
A diagnosis of beta-mannosidosis, a lysosomal storage disease caused by a deficiency of beta-mannosidase, was made in 12 purebred… (More)
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1991
1991
The preliminary finding that nonprotein additions to the protein product of the ice-nucleating gene of Pseudomonas syringae or… (More)
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1988
1988
Caprine beta-mannosidosis is an autosomal recessive defect of glycoprotein catabolism with a deficiency of tissue and plasma beta… (More)
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1984
1984
The early alterations at the level of the proximal tubule of the human kidney caused by the three most currently used… (More)
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1983
1983
Beta-mannosidosis, an inherited defect of glycoprotein catabolism associated with deficiency of tissue beta-mannosidase and… (More)
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