Clinical and biochemical analysis of two families with type I and type II mannosidosis
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference24 articles.
1. The substrate-specificity of human lysosomal α-d-mannosidase in relation to genetic α-mannosidosis
2. MANNOSIDOSIS: CLINICAL, FINE-STRUCTURAL AND BIOCHEMICAL FINDINGS IN THREE CASES
3. Mannosidosis: Phenotype of a severely affected child and characterization of α-mannosidase activity in cultured fibroblasts from the patient and his parents
4. A New Variant of Mannosidosis with Increased Residual Enzymatic Activity and Mild Clinical Manifestation
5. Mannosidosis: Separation and Characterization of Two Acid α-Mannosidase Forms in Mutant Fibroblasts
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1. Retinal and optic nerve degeneration in α-mannosidosis;Orphanet Journal of Rare Diseases;2018-06-01
2. Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation;Orphanet Journal of Rare Diseases;2015-06-06
3. Lysosomal Storage Diseases;Textbook of Clinical Pediatrics;2012
4. Alpha-mannosidase activity in goats fed with Sida carpinifolia;Experimental and Toxicologic Pathology;2010-03
5. Impaired Lysosomal Trimming of N-Linked Oligosaccharides Leads to Hyperglycosylation of Native Lysosomal Proteins in Mice with α-Mannosidosis;Molecular and Cellular Biology;2010-01
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