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Mannosidase Deficiency Diseases
Known as:
Deficiency Syndromes, Mannosidase
, Mannosidosis
, Deficiency Syndrome, Mannosidase
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A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase…
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National Institutes of Health
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Related topics
Related topics
12 relations
Broader (2)
Enzyme Deficiency
Lysosomal Storage Diseases
Hereditary Diseases
In Blood
Mannosidase
Mental Retardation
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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
R. D'Hooge
,
R. Lüllmann-Rauch
,
+5 authors
P. Saftig
Journal of Neuroscience
2005
Corpus ID: 23595072
Mice with α-mannosidase gene inactivation provide an experimental model for α-mannosidosis, a lysosomal storage disease with…
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Highly Cited
1982
Highly Cited
1982
alpha-D-Mannosidases of rat liver Golgi membranes. Mannosidase II is the GlcNAcMAN5-cleaving enzyme in glycoprotein biosynthesis and mannosidases Ia and IB are the enzymes converting Man9 precursors…
D. Tulsiani
,
S C Hubbard
,
P. W. Robbins
,
O. Touster
Journal of Biological Chemistry
1982
Corpus ID: 33417956
Highly Cited
1981
Highly Cited
1981
Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase.
M. Jones
,
G. Dawson
Journal of Biological Chemistry
1981
Corpus ID: 26709473
1980
1980
A 500 MHz 1H NMR study of urinary oligosaccharides from patients with mannosidosis
H. Halbeek
,
L. Dorland
,
+5 authors
W. Hull
FEBS Letters
1980
Corpus ID: 34495829
Highly Cited
1976
Highly Cited
1976
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts.
G. Thomas
,
G. Tiller
,
L. Reynolds
,
C. Miller
,
J. W. Bace
Biochemical and Biophysical Research…
1976
Corpus ID: 1566538
Highly Cited
1976
Highly Cited
1976
Lipid-saccharide intermediates in glycoprotein biosynthesis. II. Studies on the structure of an oligosaccharide-lipid from thyroid.
R. Spiro
,
M. J. Spiro
,
V. Bhoyroo
Journal of Biological Chemistry
1976
Corpus ID: 5646792
Structural studies have been performed on an oligosaccharide-lipid from thyroid believed to be an intermediate in glycoprotein…
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Highly Cited
1974
Highly Cited
1974
Effect of Streptozotocin Diabetes on Acid Phosphatase and Selected Glycosidase Activities of Serum and Various Rat Organs
P. Rosenblit
,
R. Metzger
,
A. N. Wick
Proceedings of the Society for Experimental…
1974
Corpus ID: 20467940
Summary The activities of the lysosomal hydrolases α-l-fucosidase, α-d-mannosidase, β-d-galactosidase, and N-acetyl-β-d-glucosa…
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Highly Cited
1973
Highly Cited
1973
A mannose-containing trisaccharide isolated from urines of three patients with mannosidosis.
N. Nordén
,
A. Lundblad
,
S. Svensson
,
P. Ockerman
,
S. Autio
Journal of Biological Chemistry
1973
Corpus ID: 28079843
Highly Cited
1973
Highly Cited
1973
A New α-d-Mannosidase Occurring in Golgi Membranes
B. Dewald
,
O. Touster
1973
Corpus ID: 82207168
Highly Cited
1973
Highly Cited
1973
MANNOSIDOSIS: CLINICAL, FINE‐STRUCTURAL AND BIOCHEMICAL FINDINGS IN THREE CASES
Seppo Auti
,
N. Nordén
,
PER‐ARNE Öckerma
,
Paavo Riekkine
,
Juhani Rapol
,
Tuula Louhim
Acta Paediatrica Scandinavica
1973
Corpus ID: 9119845
Three boys, 4, 5, and 10 years old, with psycho‐motor retardation, slightly gargoyle‐like faces and recurrent infections were…
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