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Items: 1 to 20 of 77

1.

[Sialidosis type 2].

Suzuki Y.

Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):169-70. Review. Japanese. No abstract available.

PMID:
10434621
2.

[Sialidosis type 1].

Suzuki Y.

Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):166-8. Review. Japanese. No abstract available.

PMID:
10434620
3.

[Sialidosis].

Yamaguchi S.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):463-5. Review. Japanese. No abstract available.

PMID:
9645111
4.

[Sialidosis type II, infantile form. Apropos a case].

Menau Martín G, Chabás Bergón A, López Gil JI, Fernández-Rojo F, Girós Blasco ML, González Aparicio H.

An Esp Pediatr. 1996 Jan;44(1):76-8. Review. Spanish. No abstract available.

PMID:
8849070
5.

Exclusion of NEU1 and PPGB from candidate genes for a lysosomal storage disease in Japanese Black cattle.

Masoudi AA, Yamato O, Yoneda K, Tsuji T, Mikami O, Kunieda T.

Anim Sci J. 2009 Oct;80(5):611-5. doi: 10.1111/j.1740-0929.2009.00678.x.

PMID:
20163628
6.

Molecular pathology of NEU1 gene in sialidosis.

Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV.

Hum Mutat. 2003 Nov;22(5):343-52. Review.

PMID:
14517945
7.
8.

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
9.

Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.

Lukong KE, Landry K, Elsliger MA, Chang Y, Lefrancois S, Morales CR, Pshezhetsky AV.

J Biol Chem. 2001 May 18;276(20):17286-90. Epub 2001 Feb 20.

10.

[Lysosome enzyme pseudodeficiency].

Bronner P, Rodier G, Cohen E, Derouiche F, Boulay C, Courtois S.

Rev Neurol (Paris). 2000 Nov;156(11):1005-12. Review. French.

PMID:
11119053
11.

Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.

Loren DJ, Campos Y, d'Azzo A, Wyble L, Grange DK, Gilbert-Barness E, White FV, Hamvas A.

J Perinatol. 2005 Jul;25(7):491-4.

PMID:
15908988
12.

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
13.

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.

Bonten EJ, Arts WF, Beck M, Covanis A, Donati MA, Parini R, Zammarchi E, d'Azzo A.

Hum Mol Genet. 2000 Nov 1;9(18):2715-25.

PMID:
11063730
14.

Clinical variability of type II sialidosis by C808T mutation.

Rodríguez Criado G, Pshezhetsky AV, Rodríguez Becerra A, Gómez de Terreros I.

Am J Med Genet A. 2003 Feb 1;116A(4):368-71.

PMID:
12522793
16.

Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high-risk Brazilian patients.

Castilhos CD, Mello AS, Burin MG, Guidobono RR, Gotardo S, Giugliani R, Coelho JC.

Am J Med Genet A. 2003 Jun 15;119A(3):348-51.

PMID:
12784303
17.

[Diagnosis of lysosomal diseases].

Caillaud C.

Rev Med Interne. 2007 Dec;28 Suppl 4:S288-9. Epub 2007 Oct 8. French. No abstract available.

PMID:
17961865
18.

Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.

Lukong KE, Elsliger MA, Chang Y, Richard C, Thomas G, Carey W, Tylki-Szymanska A, Czartoryska B, Buchholz T, Criado GR, Palmeri S, Pshezhetsky AV.

Hum Mol Genet. 2000 Apr 12;9(7):1075-85.

PMID:
10767332
19.

[Biological diagnosis of lysosomal diseases].

Bekri S.

Ann Biol Clin (Paris). 2006 Nov-Dec;64(6):592-600. French. No abstract available.

20.

Hydrops fetalis: lysosomal storage disorders in extremis.

Stone DL, Sidransky E.

Adv Pediatr. 1999;46:409-40. Review.

PMID:
10645471

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