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Items: 1 to 20 of 110

1.

A severe infantile sialidosis: clinical, biochemical, and microscopic features.

Aylsworth AS, Thomas GH, Hood JL, Malouf N, Libert J.

J Pediatr. 1980 Apr;96(4):662-8.

PMID:
7359270
2.

Infantile lethal neuraminidase deficiency (sialidosis).

Laver J, Fried K, Beer SI, Iancu TC, Heyman E, Bach G, Zeigler M.

Clin Genet. 1983 Feb;23(2):97-101.

PMID:
6839532
3.

Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant.

Sergi C, Beedgen B, Kopitz J, Zilow E, Zoubaa S, Otto HF, Cantz M, Linderkamp O.

Am J Perinatol. 1999;16(3):133-41.

PMID:
10438195
4.

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
5.

[A new type of sialidosis with kidney disease: nephrosialidosis. I. Clinical, radiological and nosological study].

Maroteaux P, Humbel R, Strecker G, Michalski JC, Mande R.

Arch Fr Pediatr. 1978 Oct;35(8):819-29. French.

PMID:
747492
6.

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
7.

Neuraminidase deficiency presenting as non-immune hydrops fetalis.

Beck M, Bender SW, Reiter HL, Otto W, Bässler R, Dancygier H, Gehler J.

Eur J Pediatr. 1984 Dec;143(2):135-9.

PMID:
6240403
8.

Pathological study on a severe sialidosis (alpha-neuraminidase deficiency).

Yamano T, Shimada M, Matsuzaki K, Matsumoto Y, Yoshihara W, Okada S, Inui K, Yutaka T, Yabuuchi H.

Acta Neuropathol. 1986;71(3-4):278-84.

PMID:
3799140
9.

Severe infantile sialidosis--the characteristics of oligosaccharides isolated from the urine and the abdominal ascites.

Nakamura Y, Takahashi Y, Yamaguchi S, Omiya S, Orii T, Yara A, Gushiken M.

Tohoku J Exp Med. 1992 Apr;166(4):407-15.

10.

Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation.

Buchholz T, Molitor G, Lukong KE, Praun M, Genzel-Boroviczény O, Freund M, Pshezhetsky AV, Schulze A.

Eur J Pediatr. 2001 Jan;160(1):26-30.

PMID:
11195014
11.

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
12.

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
13.

Clinical spectrum of infantile free sialic acid storage disease.

Lemyre E, Russo P, Melançon SB, Gagné R, Potier M, Lambert M.

Am J Med Genet. 1999 Feb 19;82(5):385-91. Review.

PMID:
10069709
14.

Sialidosis (neuraminidase deficiency) types I and II: neuro-ophthalmic manifestations.

Till JS, Roach ES, Burton BK.

J Clin Neuroophthalmol. 1987 Mar;7(1):40-4.

PMID:
2952680
15.

Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient.

Zammarchi E, Donati MA, Morrone A, Donzelli GP, Zhou XY, d'Azzo A.

Am J Med Genet. 1996 Aug 23;64(3):453-8.

PMID:
8862621
16.

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
17.

[A case of infantile sialidosis associated with congenital chylous ascites].

Matsuzaki K, Matsumoto Y, Yoshihara W, Okada S, Midorikawa M, Inui K, Yutaka T, Yamano T.

No To Hattatsu. 1987 May;19(3):249-53. Japanese. No abstract available.

PMID:
3580206
18.

[Ocular findings in a peculiar type of mucolipidosis called nephrosialidosis].

Dufier JL, Dhermy P, Limon S, Maroteaux P, Mande R, Polliot L.

J Fr Ophtalmol. 1980;3(4):247-56. French.

PMID:
7440902
19.

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
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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