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alpha-Mannosidosis

Known as: Deficiencies, Lysosomal alpha-D-Mannosidase, alpha-D-Mannosidase Deficiencies, Lysosomal, mannosidosis 
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of… 
National Institutes of Health

Related topics

Related topics

32 relations
Alpha-mannosidaseAutosomal recessive inheritanceCongenital pectus carinatumDysarthria

Broader (3)

Enzyme DeficiencyLysosomal Storage DiseasesMannosidase Deficiency Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2008
Review
2008
Synthetic strategies to alpha-trifluoromethyl and alpha-difluoromethyl substituted alpha-amino acids.
The combination of the unique physical and chemical properties of fluorine with proteinogenic amino acids represents a new… 
Highly Cited
2001
Highly Cited
2001
NMR and pattern recognition studies on the time-related metabolic effects of alpha-naphthylisothiocyanate on liver, urine, and plasma in the rat: an integrative metabonomic approach.
We present here a novel integrative metabonomic approach to probe toxic effects of drugs in experimental animals using alpha… 
Highly Cited
1997
Highly Cited
1997
Interaction of the DF3/MUC1 Breast Carcinoma-associated Antigen and β-Catenin in Cell Adhesion*
The DF3/MUC1 mucin-like glycoprotein is aberrantly overexpressed in human breast carcinomas. The functional role of DF3 is… 
Highly Cited
1997
Highly Cited
1997
Stimulation of NSF ATPase Activity by α-SNAP Is Required for SNARE Complex Disassembly and Exocytosis
N-ethylmaleimide–sensitive fusion protein (NSF) and α-SNAP play key roles in vesicular traffic through the secretory pathway. In… 
Highly Cited
1994
Highly Cited
1994
Alpha-tocopherol inhibits agonist-induced monocytic cell adhesion to cultured human endothelial cells.
Antioxidants have been proposed to be anti-atherosclerotic agents; however, the mechanisms underlying their beneficial effects… 
Highly Cited
1991
Highly Cited
1991
Degradation of Microtubule‐Associated Protein 2 and Brain Spectrin by Calpain: A Comparative Study
Abstract: The in vitro degradation of microtubule‐associated protein 2 (MAP‐2) and spectrin by the calcium‐dependent neutral… 
Highly Cited
1984
Highly Cited
1984
Structure of sialylated fucosyl lactosaminoglycan isolated from human granulocytes.
Highly Cited
1977
Highly Cited
1977
alpha-Bungarotoxin binding and cholinergic receptor function on a rat sympathetic nerve line.
Highly Cited
1975
Highly Cited
1975
The specificity and metabolic implications of the inhibition of pyruvate transport in isolated mitochondria and intact tissue preparations by alpha-Cyano-4-hydroxycinnamate and related compounds.
1. Effects of alpha-cyano-4-hydroxycinnamate and alpha-cyanocinnamate on a number of enzymes involved in pyruvate metabolism have… 
Review
1964
Review
1964
VISUAL EVOKED RESPONSES IN MAN: NORMATIVE DATA *
The fundamental importance of the characteristics of the cerebral electrical response to a simple pulse of light in man is… 
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