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Mannosidase Deficiency Diseases

Known as: Deficiency Syndromes, Mannosidase, Mannosidosis, Deficiency Syndrome, Mannosidase 
A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase… 
National Institutes of Health

Related topics

Related topics

12 relations

Broader (2)

Enzyme DeficiencyLysosomal Storage Diseases
Hereditary DiseasesIn BloodMannosidaseMental Retardation

Narrower (1)

alpha-Mannosidosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2005
Highly Cited
2005
Neurocognitive and Psychotiform Behavioral Alterations and Enhanced Hippocampal Long-Term Potentiation in Transgenic Mice Displaying Neuropathological Features of Human α-Mannosidosis
Mice with α-mannosidase gene inactivation provide an experimental model for α-mannosidosis, a lysosomal storage disease with… 
1992
1992
Human β‐mannosidosis: a 3‐year‐old boy with speech impairment and emotional instability
β‐mannosidosis is a recently described inherited disorder with predominantly neurological signs and symptoms as the major… 
1983
1983
The storage products in genetic and swainsonine-induced human mannosidosis.
Swainsonine induces the accumulation of mannose-rich oligosaccharides in human fibroblasts. The composition of the storage… 
Highly Cited
1981
Highly Cited
1981
Structural studies of urinary oligosaccharides from patients with mannosidosis.
1980
1980
A 500 MHz 1H NMR study of urinary oligosaccharides from patients with mannosidosis
Highly Cited
1976
Highly Cited
1976
Lipid-saccharide intermediates in glycoprotein biosynthesis. II. Studies on the structure of an oligosaccharide-lipid from thyroid.
Structural studies have been performed on an oligosaccharide-lipid from thyroid believed to be an intermediate in glycoprotein… 
Highly Cited
1974
Highly Cited
1974
Characterization of two mannose-containing oligosaccharides isolated from the urine of patients with mannosidosis.
1974
1974
Excretion of mannose-rich complex carbohydrates by a patient with alpha-mannosidase deficiency (mannosidosis).
Highly Cited
1973
Highly Cited
1973
A New α-d-Mannosidase Occurring in Golgi Membranes
Highly Cited
1973
Highly Cited
1973
MANNOSIDOSIS: CLINICAL, FINE‐STRUCTURAL AND BIOCHEMICAL FINDINGS IN THREE CASES
Three boys, 4, 5, and 10 years old, with psycho‐motor retardation, slightly gargoyle‐like faces and recurrent infections were… 
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