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Mannosidosis: Clinical, morphologic, immunologic, and biochemical studies
Robert J. Desnick
, Harvey L. Sharp
, Gregory A. Grabowski
, Richard D. Brunning
, Paul G. Quie
, Joo H. Sung
, Robert J. Gorlin
, Justus U. Ikonne
Research output
:
Contribution to journal
›
Article
›
peer-review
93
Scopus citations
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Keyphrases
Biochemical Studies
100%
Morphological Study
100%
Alpha-mannosidosis
100%
Homozygote
87%
Mannosidase
75%
Leukocytes
62%
Isozymes
50%
Liver Extracts
37%
Normal Liver
37%
Km Value
37%
Residual Activity
25%
Normal Response
25%
Zinc
25%
Ion Exchange Chromatography
25%
Electrophoresis
25%
Mannose
25%
Metabolic Defects
25%
Structural Genes
12%
Skin Fibroblasts
12%
Cultured Skin
12%
Gene mutation
12%
Human Liver
12%
Neutrophil Activation
12%
Phagocytosis
12%
Cobalt
12%
Therapeutic Approaches
12%
Recurrent Infection
12%
Normal Human
12%
Normal Activity
12%
Concanavalin A (Con A)
12%
Electronegative
12%
Major Components
12%
Catabolism
12%
Recognition Process
12%
Cellulose Acetate
12%
Phytohemagglutinin
12%
DEAE-cellulose
12%
Lysosomal Accumulation
12%
Enzymatic Diagnosis
12%
Acidic pH
12%
Lymphocyte Development
12%
Inborn Errors of Metabolism
12%
Metal Cations
12%
Metallic Ions
12%
Membrane Recognition
12%
Lineweaver-Burk Plot
12%
Metal Affinity
12%
Kinetic Binding
12%
Solubility Range
12%
Zinc-cobalt
12%
Biochemistry, Genetics and Molecular Biology
Morphology
100%
Mannosidosis
100%
Homozygote
87%
Mannosidase
75%
Leukocyte
50%
Isoenzyme
50%
Liver Extract
37%
Blood Plasma
37%
Zinc
25%
Mannose
25%
Electrophoresis
25%
Ion Chromatography
25%
Gene Mutation
12%
Normal Human
12%
Lymphocyte Transformation
12%
Structural Gene
12%
Phagocytosis
12%
Cellulose Acetate
12%
Cellulose
12%
Phytohaemagglutinin
12%
Inborn Error of Metabolism
12%
Concanavalin A
12%
Metal Binding
12%
Lineweaver-Burk Plot
12%
Fibroblast
12%
Leukocyte Membrane
12%
Deficiency
12%