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Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
Michalski JC, Klein A. Michalski JC, et al. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):69-84. doi: 10.1016/s0925-4439(99)00077-0. Biochim Biophys Acta. 1999. PMID: 10571005 Free article. Review.
This review provides details on clinical features, genotype-phenotype correlations, enzymology and biochemical storage of four human glycoprotein lysosomal storage disorders, respectively alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminida
This review provides details on clinical features, genotype-phenotype correlations, enzymology and biochemical storage of four human glycopr …
Disorders of glycoprotein degradation.
Cantz M, Ulrich-Bott B. Cantz M, et al. J Inherit Metab Dis. 1990;13(4):523-37. doi: 10.1007/BF01799510. J Inherit Metab Dis. 1990. PMID: 2122119 Review.
This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialidosis, alpha- and beta-mannosidosis, fucosidosis, aspartylglucosaminuria, and alpha-N-acetylgalactosaminidase deficien
This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialido …