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 *

42 related articles for article (PubMed ID: 3368740)

  • 1. [Sphingomyelinase deficiency (Niemann-Pick) type A. A new variant with an unusually prolonged course].
    Elleder M; Cihula J; Vanier MT
    Sb Lek; 1988 Jan; 90(1):21-5. PubMed ID: 3368740
    [No Abstract]   [Full Text] [Related]  

  • 2. Gelastic cataplexy in Niemann-Pick disease group C and related variants without generalized sphingomyelinase deficiency.
    Philippart M; Engel J; Zimmerman EG
    Ann Neurol; 1983 Oct; 14(4):492-3. PubMed ID: 6314876
    [No Abstract]   [Full Text] [Related]  

  • 3. Prenatal diagnosis of Niemann-Pick diseases types A, B and C.
    Vanier MT
    Prenat Diagn; 2002 Jul; 22(7):630-2. PubMed ID: 12124701
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K.
    Harzer K; Rolfs A; Bauer P; Zschiesche M; Mengel E; Backes J; Kustermann-Kuhn B; Bruchelt G; van Diggelen OP; Mayrhofer H; Krägeloh-Mann I
    Neuropediatrics; 2003 Dec; 34(6):301-6. PubMed ID: 14681755
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Niemann-Pick type C disease.
    Sheth JJ; Sheth FJ; Oza N
    Indian Pediatr; 2008 Jun; 45(6):505-7. PubMed ID: 18599941
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Atypical course of type-A Niemann-Pick disease].
    Cihula J; Elleder M
    Sb Ved Pr Lek Fak Karlovy Univerzity Hradci Kralove; 1984; 27(4):363-75. PubMed ID: 6599814
    [No Abstract]   [Full Text] [Related]  

  • 7. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
    Pittis MG; Ricci V; Guerci VI; Marçais C; Ciana G; Dardis A; Gerin F; Stroppiano M; Vanier MT; Filocamo M; Bembi B
    Hum Mutat; 2004 Aug; 24(2):186-7. PubMed ID: 15241805
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Lysosomal sphingomyelinase deficiency: spectrum of phenotypes in Czech and Slovak patients].
    Elleder M; Poupĕtová H; Ledvinová J; Zeman J; Rosipal S; Kraus J
    Cas Lek Cesk; 2001 Dec; 140(24):755-60. PubMed ID: 14655278
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Lymphocyte enzymes in the detection of Niemann-Pick Carriers.
    Hardy B; Hoffman J; Neri A
    Biomed Pharmacother; 1982; 36(8-9):372-5. PubMed ID: 7182017
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Liver lesion on computed tomography and ultrasonography in adult Niemann Pick disease related to sea blue histiocyte syndrome--a case report.
    Strigaris K; Kokkinis K; Liberopoulos K; Kavvadias S; Tsouroulas M; Nikolacopoulou Z
    Hepatogastroenterology; 1993 Jun; 40(3):240-3. PubMed ID: 8325590
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Report of a case of type C Niemann-Pick syndrome with atypical course].
    Ughi M; Visco G; Trevenzoli G; Lanzone B
    Pediatr Med Chir; 1999; 21(1):33-4. PubMed ID: 10451895
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Niemann-Pick disease (type C)].
    Milovanovitsh DD; Janeva A; Jovanovitsh V
    Srp Arh Celok Lek; 1995; 123(11-12):313-6. PubMed ID: 16296246
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications.
    Vanier MT
    Wien Klin Wochenschr; 1997 Feb; 109(3):68-73. PubMed ID: 9060145
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cataplexy in variant forms of Niemann-Pick disease.
    Kandt RS; Emerson RG; Singer HS; Valle DL; Moser HW
    Ann Neurol; 1982 Sep; 12(3):284-8. PubMed ID: 7137965
    [No Abstract]   [Full Text] [Related]  

  • 15. [Intravital diagnosis of Niemann-Pick disease in an adult].
    Kan'shina NF; Chemiakin AI; Ozhiganova IN
    Arkh Patol; 1986; 48(7):78-80. PubMed ID: 3753254
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [An adult form of type B Niemann-Pick disease manifesting as blue histiocyte syndrome].
    Elleder M; Benesová E
    Vnitr Lek; 1986 Nov; 32(11):1114-20. PubMed ID: 3798777
    [No Abstract]   [Full Text] [Related]  

  • 17. [Histological and histochemical aspects of the Niemann-Pick syndrome as basis for early diagnosis].
    Modzelewska I; Chibowski D; Sladowska G
    Pediatr Pol; 1971; 46(7):905-8. PubMed ID: 5092959
    [No Abstract]   [Full Text] [Related]  

  • 18. Bipolar disorder and Niemann-Pick disease type C.
    Sullivan D; Walterfang M; Velakoulis D
    Am J Psychiatry; 2005 May; 162(5):1021-2. PubMed ID: 15863815
    [No Abstract]   [Full Text] [Related]  

  • 19. Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale.
    Iturriaga C; Pineda M; Fernández-Valero EM; Vanier MT; Coll MJ
    J Neurol Sci; 2006 Nov; 249(1):1-6. PubMed ID: 16814322
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Sea-blue histiocytes in bone marrow of patient with Niemann-Pick disease type B.
    Candoni A; Doretto P; Bembi B
    Haematologica; 2001 Aug; 86(8):896. PubMed ID: 11524264
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 3.