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 *

100 related articles for article (PubMed ID: 691365)

  • 41. Niemann-Pick disease type D: lipid analyses and studies on sphingomyelinases.
    Rao BG; Spence MW
    Ann Neurol; 1977 Apr; 1(4):385-92. PubMed ID: 31133
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.
    Levran O; Desnick RJ; Schuchman EH
    Hum Mutat; 1993; 2(4):317-9. PubMed ID: 8401540
    [No Abstract]   [Full Text] [Related]  

  • 43. A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease.
    Gal AE; Brady RO; Hibbert SR; Pentchev PG
    N Engl J Med; 1975 Sep; 293(13):632-6. PubMed ID: 239343
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
    Ricci V; Stroppiano M; Corsolini F; Di Rocco M; Parenti G; Regis S; Grossi S; Biancheri R; Mazzotti R; Filocamo M
    Hum Mutat; 2004 Jul; 24(1):105. PubMed ID: 15221801
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Ocular manifestations of Niemann-Pick disease type B.
    McGovern MM; Wasserstein MP; Aron A; Desnick RJ; Schuchman EH; Brodie SE
    Ophthalmology; 2004 Jul; 111(7):1424-7. PubMed ID: 15234149
    [TBL] [Abstract][Full Text] [Related]  

  • 46. [Type C Niemann-Pick disease in 2 siblings. Biochemical bases of its diagnosis].
    Pámpols T; Pineda M; Ferreter M; Fernández E
    An Esp Pediatr; 1986 Apr; 24(4):250-6. PubMed ID: 3014938
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Quantitative evaluation of sphingomyelin and glucosylceramide using matrix-assisted laser desorption ionization time-of-flight mass spectrometry with sphingosylphosphorylcholine as an internal standard. Practical application to tissues from patients with Niemann-Pick disease types A and C, and Gaucher disease.
    Fujiwaki T; Tasaka M; Yamaguchi S
    J Chromatogr B Analyt Technol Biomed Life Sci; 2008 Jul; 870(2):170-6. PubMed ID: 18502707
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Type C Niemann-Pick disease: clinical and biochemical studies on 6 cases.
    Omura K; Suzuki Y; Norose N; Sato M; Maruyama K; Koeda T
    Brain Dev; 1989; 11(1):57-61. PubMed ID: 2522288
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Niemann-Pick disease. Analysis of liver tissue in sphingomyelinase-deficient patients.
    Elleder M; Smíd F; Harzer K; Cihula J
    Virchows Arch A Pathol Anat Histol; 1980; 385(2):215-31. PubMed ID: 7355571
    [No Abstract]   [Full Text] [Related]  

  • 50. Complementation studies in Niemann-Pick disease type C indicate the existence of a second group.
    Steinberg SJ; Ward CP; Fensom AH
    J Med Genet; 1994 Apr; 31(4):317-20. PubMed ID: 8071958
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Storage by excessive blood cell destruction or due to Niemann-Pick disease type C: an ambiguous case.
    Lageron A; Mazière JC; Gane P; Goossens D; Roy C
    J Inherit Metab Dis; 1992; 15(2):289-91. PubMed ID: 1528001
    [No Abstract]   [Full Text] [Related]  

  • 52. Acid sphingomyelinase deficiency: cardiac dysfunction and characteristic findings of the coronary arteries.
    Ishii H; Takahashi T; Toyono M; Tamura M; Harada K; Yoshida M; Nishikawa Y; Enomoto K; Takada G
    J Inherit Metab Dis; 2006 Feb; 29(1):232-4. PubMed ID: 16601902
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Evidence of polyglandular involvement in Niemann-Pick disease type B.
    Strisciuglio P; Di Maio S; Parenti G; Franzese A; Lubrano P; Mariano A; Andria G
    Eur J Pediatr; 1987 Jul; 146(4):431-3. PubMed ID: 2820735
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Clinical spectrum of Niemann-Pick disease type C.
    Fink JK; Filling-Katz MR; Sokol J; Cogan DG; Pikus A; Sonies B; Soong B; Pentchev PG; Comly ME; Brady RO
    Neurology; 1989 Aug; 39(8):1040-9. PubMed ID: 2761697
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Niemann-Pick disease type B in an Irish family.
    Lawlor E; Besley GT; Pierce P; Temperley IJ
    Ir J Med Sci; 1981 Jun; 150(6):182-9. PubMed ID: 7275564
    [No Abstract]   [Full Text] [Related]  

  • 56. Successful therapy of Niemann-Pick disease by implantation of human amniotic membrane.
    Scaggiante B; Pineschi A; Sustersich M; Andolina M; Agosti E; Romeo D
    Transplantation; 1987 Jul; 44(1):59-61. PubMed ID: 3037739
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.
    Ida H; Rennert OM; Maekawa K; Eto Y
    Hum Mutat; 1996; 7(1):65-7. PubMed ID: 8664904
    [No Abstract]   [Full Text] [Related]  

  • 58. Enzyme replacement therapy.
    Roth KS
    Clin Pediatr (Phila); 1997 Mar; 36(3):147-8. PubMed ID: 9078416
    [No Abstract]   [Full Text] [Related]  

  • 59. Niemann-Pick disease and neonatal hepatitis.
    Ozsoylu S; Koçak N
    J Pediatr Gastroenterol Nutr; 1987; 6(2):314. PubMed ID: 3694357
    [No Abstract]   [Full Text] [Related]  

  • 60. Treatment of patients with Niemann-Pick type is using repeated amniotic epithelial cells implantation: correction of aggregation and coagulation abnormalities.
    Cerneca F; Andolina M; Simeone R; Boscolo R; Ciana G; Bembi B
    Clin Pediatr (Phila); 1997 Mar; 36(3):141-6. PubMed ID: 9078415
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 5.