Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
April-2018 Volume 15 Issue 4

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
April-2018 Volume 15 Issue 4

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article Open Access

Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease

  • Authors:
    • Yan Ouyang
    • Bing Chen
    • Xiaoxia Pan
    • Zhaohui Wang
    • Hong Ren
    • Yaowen Xu
    • Liyan Ni
    • Xialian Yu
    • Li Yang
    • Nan Chen
  • View Affiliations / Copyright

    Affiliations: Department of Nephrology, Institute of Nephrology, Ruijin Hospital, The Medical School of Shanghai Jiao Tong University, Shanghai 200025, P.R. China, Department of Pharmacy, Ruijin Hospital, The Medical School of Shanghai Jiao Tong University, Shanghai 200025, P.R. China
    Copyright: © Ouyang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 3733-3742
    |
    Published online on: February 26, 2018
       https://doi.org/10.3892/etm.2018.5889
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Although plasma globotriaosylsphingosine (lyso‑Gb3) is a promising biomarker of Fabry disease (FD), few studies have assessed the impact of lyso‑Gb3 in patients with FD. A total of 38 patients diagnosed with FD at Ruijin Hospital between January 2012 and December 2014 were recruited in the current study. An additional 120 unrelated healthy individuals were selected as healthy controls. A simplified liquid chromatography‑tandem mass spectrometry (LC‑MS/MS) assay was performed to determine lyso‑Gb3 levels in plasma. Protein precipitation and glycolipid extraction were conducted using acetone/methanol. Clinical performance, including diagnostic value and disease surveillance, were compared between plasma lyso‑Gb3 levels and α‑galactosidase A (α‑gal A) enzyme activity. The overall coefficient of variation values between inter‑ and intra‑days varied between 2.8 and 18.9% and linearity correlation coefficients were ≥0.99 for all assays. Therefore, the effectiveness of the LC‑MS/MS method was validated. Furthermore, a cut‑off value of 0.81 ng/ml plasma lyso‑Gb3 was able to separate patients with FD from healthy individuals. The sensitivity of this cut‑off was 94.7% and the specificity was 100%. Compared with α‑gal A enzyme activity, the diagnostic rate of patients assessed using plasma lyso‑Gb3 levels was similar; however, there was a tighter correlation between plasma lyso‑Gb3 levels and the mainz severity score index score in male patients (r=0.711 vs. r=‑0.687). The sensitivity of plasma lyso‑Gb3 in diagnosing female patients with FD was higher than α‑gal A enzyme activity (82.4 vs. 23.5%). To the best of our knowledge, the present study is the first to report the effectiveness of plasma lyso‑Gb3 levels in diagnosing Chinese patients with FD. Using α‑gal A activity as a reference, the results of current study indicated that plasma lyso‑Gb3 levels are more useful at diagnosing female patients with FD. Furthermore, plasma lyso‑Gb3 levels are more suitable at determining overall disease severity in male patients.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

Figure 5

Figure 6

View References

1 

Germain DP: Fabry disease. Orphanet J Rare Dis. 5:302010. View Article : Google Scholar : PubMed/NCBI

2 

Askari H, Kaneski CR, Semino-Mora C, Desai P, Ang A, Kleiner DE, Perlee LT, Quezado M, Spollen LE, Wustman BA and Schiffmann R: Cellular and tissue localization of globotriaosylceramide in Fabry disease. Virchows Arch. 451:823–834. 2007. View Article : Google Scholar : PubMed/NCBI

3 

Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S and Wilcox WR: Fabry disease, an under-recognized multisystemic disorder: Expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 138:338–346. 2003. View Article : Google Scholar : PubMed/NCBI

4 

Elleder M, Bradová V, Smíd F, Budĕsínský M, Harzer K, Kustermann-Kuhn B, Ledvinová J, Bĕlohlávek, Král V and Dorazilová V: Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol. 417:449–455. 1990. View Article : Google Scholar : PubMed/NCBI

5 

Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM, Tanaka H, et al: Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a ‘renal variant’ phenotype. Kidney Int. 64:801–807. 2003. View Article : Google Scholar : PubMed/NCBI

6 

Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL and Laster L: Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency. N Engl J Med. 276:1163–1167. 1967. View Article : Google Scholar : PubMed/NCBI

7 

Linthorst GE, Vedder AC, Aerts JM and Hollak CE: Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. Clin Chim Acta. 353:201–203. 2005. View Article : Google Scholar : PubMed/NCBI

8 

Kitagawa T, Ishige N, Suzuki K, Owada M, Ohashi T, Kobayashi M, Eto Y, Tanaka A, Mills K, Winchester B and Keutzer J: Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry. Mol Genet Metab. 85:196–202. 2005. View Article : Google Scholar : PubMed/NCBI

9 

Whitfield PD, Calvin J, Hogg S, O'Driscoll E, Halsall D, Burling K, Maguire G, Wright N, Cox TM, Meikle PJ and Deegan PB: Monitoring enzyme replacement therapy in Fabry disease-role of urine globotriaosylceramide. J Inherit Metab Dis. 28:21–33. 2005. View Article : Google Scholar : PubMed/NCBI

10 

Rozenfeld PA, De Francesco NP, Borrajo GJ, Ceci R and Fossati CA: An easy and sensitive method for determination of globotriaosylceramide (Gb3) from urinary sediment: Utility for Fabry disease diagnosis and treatment monitoring. Clin Chim Acta. 403:194–197. 2009. View Article : Google Scholar : PubMed/NCBI

11 

Young E, Mills K, Morris P, Vellodi A, Lee P, Waldek S and Winchester B: Is globotriaosylceramide a useful biomarker in Fabry disease? Acta Paediatr Suppl. 94:51–54; discussion 37–58. 2005. View Article : Google Scholar : PubMed/NCBI

12 

Blaydon D, Hill J and Winchester B: Fabry disease: 20 novel GLA mutations in 35 families. Hum Mutat. 18:4592001. View Article : Google Scholar : PubMed/NCBI

13 

Schäfer E, Baron K, Widmer U, Deegan P, Neumann HP, Sunder-Plassmann G, Johansson JO, Whybra C, Ries M, Pastores GM, et al: Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. Hum Mutat. 25:4122005. View Article : Google Scholar

14 

van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH, Linthorst GE and Hollak CE: A systematic review on screening for Fabry disease: Prevalence of individuals with genetic variants of unknown significance. J Med Genet. 51:1–9. 2014. View Article : Google Scholar : PubMed/NCBI

15 

Fazekas F, Enzinger C, Schmidt R, Grittner U, Giese AK, Hennerici MG, Huber R, Jungehulsing GJ, Kaps M, Kessler C, et al: Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event. Stroke. 46:1548–1553. 2015. View Article : Google Scholar : PubMed/NCBI

16 

van der Tol L, Cassiman D, Houge G, Janssen MC, Lachmann RH, Linthorst GE, Ramaswami U, Sommer C, Tøndel C, West ML, et al: Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: Consensus on the approach to diagnosis and follow-up. JIMD Rep. 17:83–90. 2014. View Article : Google Scholar : PubMed/NCBI

17 

van der Tol L, Svarstad E, Ortiz A, Tøndel C, Oliveira JP, Vogt L, Waldek S, Hughes DA, Lachmann RH, Terryn W, et al: Chronic kidney disease and an uncertain diagnosis of Fabry disease: Approach to a correct diagnosis. Mol Genet Metab. 114:242–247. 2015. View Article : Google Scholar : PubMed/NCBI

18 

Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA, Linthorst GE, Timmermans J, Weidemann F, West ML, Biegstraaten M, et al: Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance. Int J Cardiol. 177:400–408. 2014. View Article : Google Scholar : PubMed/NCBI

19 

Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R, van Roomen C, Mirzaian M, Wijburg FA, Linthorst GE, et al: Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci USA. 105:pp. 2812–2817. 2008; View Article : Google Scholar : PubMed/NCBI

20 

Togawa T, Kodama T, Suzuki T, Sugawara K, Tsukimura T, Ohashi T, Ishige N, Suzuki K, Kitagawa T and Sakuraba H: Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Mol Genet Metab. 100:257–261. 2010. View Article : Google Scholar : PubMed/NCBI

21 

Rombach SM, Dekker N, Bouwman MG, Linthorst GE, Zwinderman AH, Wijburg FA, Kuiper S, Vd Bergh Weerman MA, Groener JE, Poorthuis BJ, et al: Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta. 1802:741–748. 2010. View Article : Google Scholar : PubMed/NCBI

22 

Krüger R, Tholey A, Jakoby T, Vogelsberger R, Mönnikes R, Rossmann H, Beck M and Lackner KJ: Quantification of the Fabry marker lysoGb3 in human plasma by tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 883–884. 1–135. 2012.

23 

Gold H, Mirzaian M, Dekker N, Joao Ferraz M, Lugtenburg J, Codée JD, van der Marel GA, Overkleeft HS, Linthorst GE, Groener JE, et al: Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry. Clin Chem. 59:547–556. 2013. View Article : Google Scholar : PubMed/NCBI

24 

Boutin M, Gagnon R, Lavoie P and Auray-Blais C: LC-MS/MS analysis of plasma lyso-Gb3 in Fabry disease. Clin Chim Acta. 414:273–280. 2012. View Article : Google Scholar : PubMed/NCBI

25 

Lukas J, Giese AK, Markoff A, Grittner U, Kolodny E, Mascher H, Lackner KJ, Meyer W, Wree P, Saviouk V and Rolfs A: Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. PLoS Genet. 9:e10036322013. View Article : Google Scholar : PubMed/NCBI

26 

Lavoie P, Boutin M and Auray-Blais C: Multiplex analysis of novel urinary lyso-Gb3-related biomarkers for Fabry disease by tandem mass spectrometry. Anal Chem. 85:1743–1752. 2013. View Article : Google Scholar : PubMed/NCBI

27 

Boutin M and Auray-Blais C: Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb3-related analogues in Fabry disease. Anal Chem. 86:3476–3483. 2014. View Article : Google Scholar : PubMed/NCBI

28 

Auray-Blais C, Boutin M, Gagnon R, Dupont FO, Lavoie P and Clarke JT: Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics. Anal Chem. 84:2745–2753. 2012. View Article : Google Scholar : PubMed/NCBI

29 

Dupont FO, Gagnon R, Boutin M and Auray-Blais C: A metabolomic study reveals novel plasma lyso-Gb3 analogs as Fabry disease biomarkers. Curr Med Chem. 20:280–288. 2013. View Article : Google Scholar : PubMed/NCBI

30 

Sessa A, Toson A, Nebuloni M, Pallotti F, Giordano F, Battini G, Maglio A, Meroni M, Calconi G, Bertolone G and Gatti P: Renal ultrastructural findings in Anderson-Fabry disease. J Nephrol. 15:109–112. 2002.PubMed/NCBI

31 

Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW and Krivit W: Fabry's disease: Enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med. 81:157–171. 1973.PubMed/NCBI

32 

Pan X, Ouyang Y, Wang Z, Ren H, Shen P, Wang W, Xu Y, Ni L, Yu X, Chen X, et al: Genotype: A crucial but not unique factor affecting the clinical phenotypes in fabry disease. PLoS One. 11:e01613302016. View Article : Google Scholar : PubMed/NCBI

33 

Levey AS, Stevens LA, Schmid CH, Zhang YL, Castro AF III, Feldman HI, Kusek JW, Eggers P, Van Lente F, Greene T, et al: A new equation to estimate glomerular filtration rate. Ann Intern Med. 150:604–612. 2009. View Article : Google Scholar : PubMed/NCBI

34 

Schwartz GJ, Haycock GB, Edelmann CM Jr and Spitzer A: A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine. Pediatrics. 58:259–263. 1976.PubMed/NCBI

35 

Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel E, Miebach E, Baehner F, Kim K, Bajbouj M, Schwarting A, et al: The mainz severity score index: A new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet. 65:299–307. 2004. View Article : Google Scholar : PubMed/NCBI

36 

Bligh EG and Dyer WJ: A rapid method of total lipid extraction and purification. Can J Biochem Physiol. 37:911–917. 1959. View Article : Google Scholar : PubMed/NCBI

37 

NCCLS, . Evaluation of Precision Performance of Quantitative Measurement Methods; Approved Guideline-Second Edition. NCCLS document EP5-A2. ISBN: 1-56238-542-9NCCLS; Wayne, PA: 2004

38 

NCCLS, . Evaluation of the Linearity of Quantitative Measurement Procedures: A Statistical Approach; Approved Guideline. NCCLS document EP6-A. ISBN: 1-56238-498-8NCCLS; Wayne, PA: 2003

39 

Jamboti J and Forrest CH: Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed. J Nephropathol. 6:130–133. 2017. View Article : Google Scholar : PubMed/NCBI

40 

Kes VB, Cesarik M, Zavoreo I, Butković SS, Kes P, Bašić-Jukić N, Rački S, Jakić M, Delić-Brkljačić D, Jukić Z, et al: Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease. Acta Med Croatica. 68:223–232. 2014.PubMed/NCBI

41 

Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CE and Poorthuis BJ: Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet. 52:262–268. 2015. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Ouyang Y, Chen B, Pan X, Wang Z, Ren H, Xu Y, Ni L, Yu X, Yang L, Chen N, Chen N, et al: Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease. Exp Ther Med 15: 3733-3742, 2018.
APA
Ouyang, Y., Chen, B., Pan, X., Wang, Z., Ren, H., Xu, Y. ... Chen, N. (2018). Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease. Experimental and Therapeutic Medicine, 15, 3733-3742. https://doi.org/10.3892/etm.2018.5889
MLA
Ouyang, Y., Chen, B., Pan, X., Wang, Z., Ren, H., Xu, Y., Ni, L., Yu, X., Yang, L., Chen, N."Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease". Experimental and Therapeutic Medicine 15.4 (2018): 3733-3742.
Chicago
Ouyang, Y., Chen, B., Pan, X., Wang, Z., Ren, H., Xu, Y., Ni, L., Yu, X., Yang, L., Chen, N."Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease". Experimental and Therapeutic Medicine 15, no. 4 (2018): 3733-3742. https://doi.org/10.3892/etm.2018.5889
Copy and paste a formatted citation
x
Spandidos Publications style
Ouyang Y, Chen B, Pan X, Wang Z, Ren H, Xu Y, Ni L, Yu X, Yang L, Chen N, Chen N, et al: Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease. Exp Ther Med 15: 3733-3742, 2018.
APA
Ouyang, Y., Chen, B., Pan, X., Wang, Z., Ren, H., Xu, Y. ... Chen, N. (2018). Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease. Experimental and Therapeutic Medicine, 15, 3733-3742. https://doi.org/10.3892/etm.2018.5889
MLA
Ouyang, Y., Chen, B., Pan, X., Wang, Z., Ren, H., Xu, Y., Ni, L., Yu, X., Yang, L., Chen, N."Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease". Experimental and Therapeutic Medicine 15.4 (2018): 3733-3742.
Chicago
Ouyang, Y., Chen, B., Pan, X., Wang, Z., Ren, H., Xu, Y., Ni, L., Yu, X., Yang, L., Chen, N."Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease". Experimental and Therapeutic Medicine 15, no. 4 (2018): 3733-3742. https://doi.org/10.3892/etm.2018.5889
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team