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Items: 1 to 20 of 166

1.

Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case.

Winter RM, Swallow DM, Baraitser M, Purkiss P.

Clin Genet. 1980 Sep;18(3):203-10.

PMID:
6777097
2.

Neuraminidase deficiency in the original patient with the Goldberg syndrome.

Thomas GH, Goldberg MF, Miller CS, Reynolds LW.

Clin Genet. 1979 Nov;16(5):323-30.

PMID:
519904
4.

[A new observation of cherry-red spot myoclonus syndrome (author's transl)].

Martin JJ.

Acta Neurol Belg. 1980 Jan-Feb;80(1):30-6. French.

PMID:
7361541
6.

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.

PMID:
3106711
7.

Macular cherry-red spot and myoclonus syndrome. Juvenile form of sialidosis.

Federico A, Cecio A, Battini GA, Michalski JC, Strecker G, Guazzi GC.

J Neurol Sci. 1980 Nov;48(2):157-69.

PMID:
7431038
8.

Neuraminidase activities in sialidosis and mucolipidosis.

Kuriyama M, Miyatake T, Owada M, Kitagawa T.

J Neurol Sci. 1982 May;54(2):181-7.

PMID:
7097297
9.
10.

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.

PMID:
8942016
11.

Sialidosis: a review of human neuraminidase deficiency.

Lowden JA, O'Brien JS.

Am J Hum Genet. 1979 Jan;31(1):1-18. Review. No abstract available.

12.

Sialidosis: the cherry-red spot--myoclonus syndrome.

Kirkham TH, Coupland SG, Guitton D.

Can J Ophthalmol. 1980 Jan;15(1):35-9.

PMID:
7378886
13.

Km defect in neuraminidase of dysmorphic type sialidosis with and without beta-galactosidase deficiency.

Ben-Yoseph Y, Momoi T, Baylerian MS, Nadler HL.

Clin Chim Acta. 1982 Aug 18;123(3):233-40.

PMID:
6811161
14.

[Biochemical diagnosis of sialidosis in a child with a "cherry spot" in the fundus oculi as the main clinical symptom of the disease].

Tsvetkova IV, Petushkova NA, Rozenfel'd EL, Barashnev IuI, Semiachkina AN.

Vopr Med Khim. 1984 Sep-Oct;30(5):81-3. Russian.

PMID:
6241373
15.

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.

PMID:
6414819
16.

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.

17.

Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.

Sergi C, Penzel R, Uhl J, Zoubaa S, Dietrich H, Decker N, Rieger P, Kopitz J, Otto HF, Kiessling M, Cantz M.

Hum Genet. 2001 Oct;109(4):421-8.

PMID:
11702224
18.

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.

PMID:
6405017
19.

Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria.

Harzer K, Cantz M, Sewell AC, Dhareshwar SS, Roggendorf W, Heckl RW, Schofer O, Thumler R, Peiffer J, Schlote W.

Hum Genet. 1986 Nov;74(3):209-14.

PMID:
3096875
20.

Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.

Pshezhetsky AV, Richard C, Michaud L, Igdoura S, Wang S, Elsliger MA, Qu J, Leclerc D, Gravel R, Dallaire L, Potier M.

Nat Genet. 1997 Mar;15(3):316-20.

PMID:
9054950
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