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22. Neuraminidase deficiency presenting as a nephrosialidosis: the first case detected in Poland. Tylki-Szymanska A; Lugowska A; Czartoryska B Acta Paediatr Jpn; 1996 Oct; 38(5):529-32. PubMed ID: 8942016 [TBL] [Abstract][Full Text] [Related]
23. beta-Galactosidase-neuraminidase deficiency (galactosialidosis): clinical, pathological, and enzymatic studies in a postmortem case. Sakuraba H; Suzuki Y; Akagi M; Sakai M; Amano N Ann Neurol; 1983 May; 13(5):497-503. PubMed ID: 6408977 [TBL] [Abstract][Full Text] [Related]
24. Partial characterization and studies of fibroblast and leucocyte neuraminidase activities towards sialyloligosaccharides in adult sialidosis and mucolipidosis II and III. Kuriyama M; Someya F; Miyatake T; Koseki M Biochim Biophys Acta; 1981 Dec; 662(2):220-5. PubMed ID: 7317438 [TBL] [Abstract][Full Text] [Related]
25. [Mucolipidosis II (I cell disease): a sialidosis?]. Farriaux JP; Strecker G Arch Fr Pediatr; 1979 Mar; 36(3):225-34. PubMed ID: 485767 [TBL] [Abstract][Full Text] [Related]
26. Neuraminidase in mucolipidoses: normal activity in frozen autopsy tissues from three patients with I-cell disease and adult beta-galactosidase deficiency. Suzuki Y; Fukuoka K Clin Chim Acta; 1979 Dec; 99(2):107-12. PubMed ID: 116781 [TBL] [Abstract][Full Text] [Related]
29. [Adult mucolipidosis with beta-galactosidase deficiency: a clinical report, with studies of urinary sialic acid-rich substances (author's transl)]. Kuriyama M; Umezaki H; Okada S; Tanaka Y; Ishii N Rinsho Shinkeigaku; 1978 Jun; 18(6):358-63. PubMed ID: 699439 [No Abstract] [Full Text] [Related]
30. Combined sialidase (neuraminidase) and beta-galactosidase deficiency. Clinical, morphological and enzymological observations in a patient. Loonen MC; Reuser AJ; Visser P; Arts WF Clin Genet; 1984 Aug; 26(2):139-49. PubMed ID: 6432381 [TBL] [Abstract][Full Text] [Related]
31. Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man. D'Azzo A; Hoogeveen A; Reuser AJ; Robinson D; Galjaard H Proc Natl Acad Sci U S A; 1982 Aug; 79(15):4535-9. PubMed ID: 6812049 [TBL] [Abstract][Full Text] [Related]
32. Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia. Thomas GH; Tipton RE; Ch'ien LT; Reynolds LW; Miller CS Clin Genet; 1978 Apr; 13(4):369-79. PubMed ID: 657577 [TBL] [Abstract][Full Text] [Related]
33. Sialidosis type 2 in Japan. Clinical study in two siblings' cases and review of literature. Matsuo T; Egawa I; Okada S; Suetsugu M; Yamamoto K; Watanabe M J Neurol Sci; 1983 Jan; 58(1):45-55. PubMed ID: 6405017 [TBL] [Abstract][Full Text] [Related]
34. Adult GM1 gangliosidosis: clinical and biochemical studies on two patients and comparison to other patients called variant or adult GM1 gangliosidosis. Wenger DA; Sattler M; Mueller OT; Myers GG; Schneiman RS; Nixon GW Clin Genet; 1980 May; 17(5):323-34. PubMed ID: 6777095 [TBL] [Abstract][Full Text] [Related]
35. Mucolipidosis I: studies of sialidase activity and a prenatal diagnosis. Mueller OT; Wenger DA Clin Chim Acta; 1981 Feb; 109(3):313-24. PubMed ID: 7226521 [TBL] [Abstract][Full Text] [Related]
36. Neuraminidase deficiency: case report and review of the phenotype. Young ID; Young EP; Mossman J; Fielder AR; Moore JR J Med Genet; 1987 May; 24(5):283-90. PubMed ID: 3585942 [TBL] [Abstract][Full Text] [Related]
37. A severe infantile sialidosis (beta-galactosidase-alpha-neuraminidase deficiency) mimicking GM1-gangliosidosis type 1. Okada S; Sugino H; Kato T; Yutaka T; Koike M; Dezawa T; Yamano T; Yabuuchi H Eur J Pediatr; 1983 Sep; 140(4):295-8. PubMed ID: 6414819 [TBL] [Abstract][Full Text] [Related]
38. Radioassay method of neuraminidase towards N-acetylneuraminosyl hexasaccharides. Kuriyama M; Someya F; Yamada T; Miyatake T Clin Chim Acta; 1982 Feb; 119(1-2):73-80. PubMed ID: 7060278 [TBL] [Abstract][Full Text] [Related]
39. Biochemical study of sialidosis type I in a Russian family. Tsvetkova IV; Petushkova NA; Zolotuchina TV; Kucharenko VI; Rosenfeld EL J Inherit Metab Dis; 1987; 10(1):18-23. PubMed ID: 3106711 [TBL] [Abstract][Full Text] [Related]
40. Deficiency of neuraminidase in the sialidoses and the mucolipidoses. Den Tandt WR; Leroy JG Hum Genet; 1980; 53(3):383-8. PubMed ID: 7372342 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]