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 *

157 related articles for article (PubMed ID: 21617927)

  • 1. Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.
    van den Bosch J; Oemardien LF; Srebniak MI; Piraud M; Huijmans JG; Verheijen FW; Ruijter GJ
    J Inherit Metab Dis; 2011 Oct; 34(5):1069-73. PubMed ID: 21617927
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Prenatal diagnosis of free sialic acid storage disorders (SASD).
    Aula N; Aula P
    Prenat Diagn; 2006 Aug; 26(8):655-8. PubMed ID: 16715535
    [TBL] [Abstract][Full Text] [Related]  

  • 3. In response to "Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS" by van den Bosch et al.
    Albersen M; van der Ham M; Verhoeven-Duif NM; Groenendaal F; de Sain-van der Velden MG
    J Inherit Metab Dis; 2012 Jan; 35(1):177. PubMed ID: 22083207
    [No Abstract]   [Full Text] [Related]  

  • 4. Quantification of free and total sialic acid excretion by LC-MS/MS.
    van der Ham M; Prinsen BH; Huijmans JG; Abeling NG; Dorland B; Berger R; de Koning TJ; de Sain-van der Velden MG
    J Chromatogr B Analyt Technol Biomed Life Sci; 2007 Apr; 848(2):251-7. PubMed ID: 17123874
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
    Kleta R; Morse RP; Orvisky E; Krasnewich D; Alroy J; Ucci AA; Bernardini I; Wenger DA; Gahl WA
    Mol Genet Metab; 2004 Jun; 82(2):137-43. PubMed ID: 15172001
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the
    Hasnain A; Burnett S; Agatep R; Spriggs E; Chodirker B; Mhanni AAA
    Cold Spring Harb Mol Case Stud; 2021 Oct; 7(5):. PubMed ID: 34667062
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
    Kleta R; Aughton DJ; Rivkin MJ; Huizing M; Strovel E; Anikster Y; Orvisky E; Natowicz M; Krasnewich D; Gahl WA
    Am J Med Genet A; 2003 Jul; 120A(1):28-33. PubMed ID: 12794688
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease-an ultra-orphan multisystemic lysosomal storage disorder.
    Zielonka M; Garbade SF; Kölker S; Hoffmann GF; Ries M
    Genet Med; 2019 Feb; 21(2):347-352. PubMed ID: 29875421
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Liquid chromatography-tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid.
    van der Ham M; de Koning TJ; Lefeber D; Fleer A; Prinsen BH; de Sain-van der Velden MG
    J Chromatogr B Analyt Technol Biomed Life Sci; 2010 May; 878(15-16):1098-102. PubMed ID: 20362517
    [TBL] [Abstract][Full Text] [Related]  

  • 10. An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.
    Biancheri R; Verbeek E; Rossi A; Gaggero R; Roccatagliata L; Gatti R; van Diggelen O; Verheijen FW; Mancini GM
    Clin Genet; 2002 Jun; 61(6):443-7. PubMed ID: 12121352
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.
    Verheijen FW; Verbeek E; Aula N; Beerens CE; Havelaar AC; Joosse M; Peltonen L; Aula P; Galjaard H; van der Spek PJ; Mancini GM
    Nat Genet; 1999 Dec; 23(4):462-5. PubMed ID: 10581036
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease.
    Tietze F; Seppala R; Renlund M; Hopwood JJ; Harper GS; Thomas GH; Gahl WA
    J Biol Chem; 1989 Sep; 264(26):15316-22. PubMed ID: 2768266
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
    Tarailo-Graovac M; Drögemöller BI; Wasserman WW; Ross CJ; van den Ouweland AM; Darin N; Kollberg G; van Karnebeek CD; Blomqvist M
    Orphanet J Rare Dis; 2017 Feb; 12(1):28. PubMed ID: 28187749
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel form of intermediate salla disease: clinical and neuroimaging features.
    Morse RP; Kleta R; Alroy J; Gahl WA
    J Child Neurol; 2005 Oct; 20(10):814-6. PubMed ID: 16417876
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.
    Piraud M; Pettazzoni M; Menegaut L; Caillaud C; Nadjar Y; Vianey-Saban C; Froissart R
    Rapid Commun Mass Spectrom; 2017 Jun; 31(11):951-963. PubMed ID: 28370531
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease.
    Valianpour F; Abeling NG; Duran M; Huijmans JG; Kulik W
    Clin Chem; 2004 Feb; 50(2):403-9. PubMed ID: 14684624
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.
    Kang E; Kim YM; Heo SH; Jung E; Kim KS; Yoo HJ; Kim EN; Kim CJ; Kim GH; Lee BH
    Clin Chim Acta; 2018 Jul; 482():199-202. PubMed ID: 29654786
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.
    Al-Dirbashi OY; Kurdi W; Imtiaz F; Ahmad AM; Al-Sayed M; Tulbah M; Al-Nemer M; Rashed MS
    Prenat Diagn; 2009 May; 29(5):477-80. PubMed ID: 19235826
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
    Barmherzig R; Bullivant G; Cordeiro D; Sinasac DS; Blaser S; Mercimek-Mahmutoglu S
    Pediatr Neurol; 2017 Sep; 74():87-91.e2. PubMed ID: 28662915
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.