Five year follow-up of two sisters with type II sialidosis: systemic and ophthalmic findings including OCT analysis.
暂无分享,去创建一个
[1] A. d’Azzo,et al. Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease. , 2010, Biochemical Society transactions.
[2] S. Grossi,et al. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients , 2009, Journal of Neurology.
[3] C. Barr,et al. Cherry red spot in sialidosis (mucolipidosis type I). , 2008, Archives of ophthalmology.
[4] M. Fornerod,et al. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. , 1996, Genes & development.
[5] S. Franceschetti,et al. Sialidosis type I: pathological study in an adult. , 1989, Clinical neuropathology.
[6] N. Tanaka,et al. Liver glutathione S-transferase polymorphism in Japanese and its pharmacogenetic importance , 1987, Human Genetics.
[7] T. Sasazuki,et al. The patient with combined deficiency of neuraminidase and 21-hydroxylase , 1987, Human Genetics.
[8] K. Hirokawa,et al. Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia , 2009, Acta Neuropathologica.
[9] B. Homer,et al. Naturally occurring GM2 gangliosidosis in two Muntjak deer with pathological and biochemical features of human classical Tay-Sachs disease (type B GM2 gangliosidosis) , 1999, Acta Neuropathologica.