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PubMed 19451548 Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. We 1.47 KB 2019-05-30 55 0
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PubMed 1472759 Alterations of glycosphingolipid-based blood group antigen expression on erythrocytes and in plasma 1.53 KB 2019-05-30 55 0
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PubMed 16311883 Serum hyaluronidase aberrations in metabolic and morphogenetic disorders. Hyaluronidases are endo-gl 2.08 KB 2019-05-30 41 0
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PubMed 2211661 Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome. The markedl 1.15 KB 2015-11-26 40 0
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PubMed 1596919 Proteoglycans in human burn hypertrophic scar from a patient with Ehlers-Danlos syndrome. Proteoglyc 993 Bytes 2015-11-22 38 0
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PubMed 18470323 Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) g 2.08 KB 2015-11-24 38 0
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PubMed 838695 Structural analysis of oligosaccharides isolated from the urine of a blood group A, secretor, woman 2.41 KB 2018-12-27 36 0
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PubMed 1353340 Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new all 716 Bytes 2015-11-18 36 0
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PubMed 809441 Metabolism of neutral glycosphingolipids in plasma of a normal human and a patient with Fabry's dise 2.17 KB 2015-12-04 36 0
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PubMed 17059986 A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial h 1.74 KB 2015-11-23 36 0
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