These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

267 related articles for article (PubMed ID: 15908988)

  • 1. 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. PubMed ID: 15908988
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 11702224
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Histological, biochemical, and genetic characterization of early-onset fulminating sialidosis type 2 in a Korean neonate with hydrops fetalis.
    Lee BH; Kim YM; Kim JH; Kim GH; Lee BS; Kim CJ; Yoo HJ; Yoo HW
    Brain Dev; 2014 Feb; 36(2):171-5. PubMed ID: 23433491
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 14517945
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression.
    Pattison S; Pankarican M; Rupar CA; Graham FL; Igdoura SA
    Hum Mutat; 2004 Jan; 23(1):32-9. PubMed ID: 14695530
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient.
    Penzel R; Uhl J; Kopitz J; Beck M; Otto HF; Cantz M
    FEBS Lett; 2001 Jul; 501(2-3):135-8. PubMed ID: 11470272
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.
    Kwak JE; Son MY; Son YS; Son MJ; Cho YS
    Biochem Biophys Res Commun; 2015 Feb; 457(4):554-60. PubMed ID: 25600812
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement.
    Oheda Y; Kotani M; Murata M; Sakuraba H; Kadota Y; Tatano Y; Kuwahara J; Itoh K
    Glycobiology; 2006 Apr; 16(4):271-80. PubMed ID: 16361247
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Congenital sialidosis.
    Ovali F; Samanci N; Güray A; Akdoğan Z; Akdeniz C; Dağoğlu T; Petorak I
    Turk J Pediatr; 1998; 40(3):447-51. PubMed ID: 9763912
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Short-term, high dose enzyme replacement therapy in sialidosis mice.
    Wang D; Bonten EJ; Yogalingam G; Mann L; d'Azzo A
    Mol Genet Metab; 2005 Jul; 85(3):181-9. PubMed ID: 15979029
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 10438195
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Investigation of lysosomal storage diseases in nonimmune hydrops fetalis.
    Burin MG; Scholz AP; Gus R; Sanseverino MT; Fritsh A; Magalhães JA; Timm F; Barrios P; Chesky M; Coelho JC; Giugliani R
    Prenat Diagn; 2004 Aug; 24(8):653-7. PubMed ID: 15305357
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.
    Caciotti A; Melani F; Tonin R; Cellai L; Catarzi S; Procopio E; Chilleri C; Mavridou I; Michelakakis H; Fioravanti A; d'Azzo A; Guerrini R; Morrone A
    Mol Genet Metab; 2020 Feb; 129(2):47-58. PubMed ID: 31711734
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hydrops fetalis: lysosomal storage disorders in extremis.
    Stone DL; Sidransky E
    Adv Pediatr; 1999; 46():409-40. PubMed ID: 10645471
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings.
    Pérez-Cabeza MI; Borrás F; Moreno-Medinilla EE; Bardán-Rebollar D; Ferrer-López I; Rodríguez-García E; Jiménez-Machado R; Castro-Vega I; Benito C; Escudero J; Yahyaoui R
    J AAPOS; 2019 Apr; 23(2):102-104. PubMed ID: 30445145
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 11195014
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 9(18):2715-25. PubMed ID: 11063730
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 9054950
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cardiovascular involvement in alpha-n-acetyl neuraminidase deficiency syndromes (sialidosis type I and II).
    Prasanna P; Sriram CS; Rodriguez SH; Kohli U
    Cardiol Young; 2021 May; 31(5):862-864. PubMed ID: 33507140
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hemophagocytic lymphohistiocytosis presenting with nonimmune hydrops fetalis.
    Malloy CA; Polinski C; Alkan S; Manera R; Challapalli M
    J Perinatol; 2004 Jul; 24(7):458-60. PubMed ID: 15224121
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.