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3. Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia. Uchihara T; Ohashi K; Kitagawa M; Kurata M; Nakamura A; Hirokawa K; Kasuga T; Kobayashi T Acta Neuropathol; 2010 Jan; 119(1):135-45. PubMed ID: 19415310 [TBL] [Abstract][Full Text] [Related]
4. Peripheral neuropathy in the cherry-red spot-myoclonus syndrome (sialidosis type I). Steinman L; Tharp BR; Dorfman LJ; Forno LS; Sogg RL; Kelts KA; O'Brien JS Ann Neurol; 1980 May; 7(5):450-6. PubMed ID: 6249183 [No Abstract] [Full Text] [Related]
5. I-cell disease. A case report and review of the literature. Kamiya M; Tada T; Kuhara H; Kishimoto H; Wada Y; Hashizume Y; Wakabayashi T Acta Pathol Jpn; 1986 Nov; 36(11):1679-92. PubMed ID: 3811911 [TBL] [Abstract][Full Text] [Related]
6. [A new observation of cherry-red spot myoclonus syndrome (author's transl)]. Martin JJ Acta Neurol Belg; 1980; 80(1):30-6. PubMed ID: 7361541 [TBL] [Abstract][Full Text] [Related]
8. Mucolipidosis I--a sialidosis. Sphranger J; Gehler J; Cantz M Am J Med Genet; 1977; 1(1):21-9. PubMed ID: 610423 [TBL] [Abstract][Full Text] [Related]
9. [Mucolipidosis type I. Sialidosis due to alpha-2-6-neuraminidase deficiency with neurological symptoms]. Maroteaux P; Poissonnier M; Tondeur M; Strecker G; Lemonnier M Arch Fr Pediatr; 1978 Mar; 35(3):280-91. PubMed ID: 666524 [TBL] [Abstract][Full Text] [Related]
10. [Case of mucolipidosis type I with a primary alpha-D-neuraminidase deficiency]. Louis JJ; Maire I; Hermier M; Nicolas A; Guibaud P J Genet Hum; 1983 Jun; 31(2):79-91. PubMed ID: 6415236 [TBL] [Abstract][Full Text] [Related]
11. Ultrastructural study on a severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency). Yamano T; Shimada M; Sugino H; Dezawa T; Koike M; Okada S; Yabuuchi H Neuropediatrics; 1985 May; 16(2):109-12. PubMed ID: 3925363 [TBL] [Abstract][Full Text] [Related]
13. [Two siblings with adult-onset sialidosis type I (cherry-red spot-myoclonus syndrome)]. Tana T; Komine Y; Kanzato N; Kawazoe N; Fukiyama K Rinsho Shinkeigaku; 1995 Jul; 35(7):803-5. PubMed ID: 8777807 [TBL] [Abstract][Full Text] [Related]
14. Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobility of some enzymes known to be glycoproteins. II. Enzymes studies. Swallow DM; Evans L; Stewart G; Thomas PK; Abrams JD Ann Hum Genet; 1979 Jul; 43(1):27-35. PubMed ID: 496393 [TBL] [Abstract][Full Text] [Related]
15. I-cell disease (mucolipidosis 11). Pathological and biochemical studies of an autopsy case. Nagashima K; Sakakibara K; Endo H; Konishi Y; Nakamura N; Suzuki Y; Abe T Acta Pathol Jpn; 1977 Mar; 27(2):251-64. PubMed ID: 193352 [TBL] [Abstract][Full Text] [Related]
17. Histological studies of renal biopsy in a boy with nephrosialidosis. Chen W; Yang S; Shi H; Guan W; Dong Y; Wang Y; Wang L Ultrastruct Pathol; 2011 Aug; 35(4):168-71. PubMed ID: 21568622 [TBL] [Abstract][Full Text] [Related]