Cynthia S. Gubbels

Most-cited papers

1. The Adult Galactosemic Phenotype

   S. Waisbren, Nancy L. Potter, C. Gordon, R. Green +28 more

   2011Journal of Inherited Metabolic Disease165 citations Open access

   Semantic Scholar

   Save

2. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

   L. Welling, L. Bernstein, G. Berry, A. Burlina +19 more

   2016Journal of Inherited Metabolic Disease155 citations Open access

   Semantic Scholar

   Save

3. Ovarian function in girls and women with GALT-deficiency galactosemia

   J. L. Fridovich-Keil, Cynthia S. Gubbels, J. Spencer, Rebecca D. Sanders +2 more

   2010Journal of Inherited Metabolic Disease133 citations Open access

   Semantic Scholar

   Save

4. Gonadal function in male and female patients with classic galactosemia.

   M. E. Rubio-Gozalbo, Cynthia S. Gubbels, J. A. Bakker, Paul P. C. A. Menheere +2 more

   2010Human Reproduction Update115 citations Open access

   Semantic Scholar

   Save

5. Fertility and Impact of Pregnancies on the Mother and Child in Classic Galactosemia

   Cynthia S. Gubbels, J. Land, M. E. Rubio-Gozalbo

   2008Obstetrical and Gynecological Survey62 citations

   Semantic Scholar

   Save

6. Fertility preservation in female classic galactosemia patients

   Britt van Erven, Cynthia S. Gubbels, R. van Golde, G. Dunselman +8 more

   2013Orphanet Journal of Rare Diseases36 citations Open access

   Semantic Scholar

   Save

7. Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone.

   Cynthia S. Gubbels, S. Kuppens, J. A. Bakker, Constantijn J. A. M. Konings +4 more

   2009Fertility and Sterility36 citations Open access

   Semantic Scholar

   Save

8. Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion

   Cynthia S. Gubbels, J. Land, Johannes L. H. Evers, J. Bierau +3 more

   2012Journal of Inherited Metabolic Disease27 citations Open access

   Semantic Scholar

   Save

9. FSH isoform pattern in classic galactosemia

   Cynthia S. Gubbels, C. Thomas, Will K. W. H. Wodzig, André J. Olthaar +3 more

   2010Journal of Inherited Metabolic Disease26 citations Open access

   Semantic Scholar

   Save

10. The male reproductive system in classic galactosemia: cryptorchidism and low semen volume

    Cynthia S. Gubbels, C. Welt, J. Dumoulin, S. Robben +4 more

    2013Journal of Inherited Metabolic Disease25 citations

    Semantic Scholar

    Save

11. UvA-DARE ( Digital Academic Repository ) Psychosocial developmental milestones in men with classic galactosemia

    Cynthia S. Gubbels, H. Maurice-Stam, G. Berry, A. Bosch +3 more

    201119 citations

    Semantic Scholar

    Save

12. OVARIAN INSUFFICIENCY IN FEMALE CLASSIC GALACTOSEMIA PATIENTS : TIMING OF THE LESION

    Cynthia S. Gubbels, J. Land, J. Bierau, S. Robben +1 more

    20110 citations

    Semantic Scholar

    Save

13. OVARIAN INSUFFICIENCY IN FEMALE CLASSIC GALACTOSEMIA PATIENTS

    Cynthia S. Gubbels, J. Land, J. Bierau, S. Robben +1 more

    20110 citations

    Semantic Scholar

    Save

14. Reply of the Authors: Do patients with heterozygote mutations in GALT gene have increased risk for impaired reproductive functions?

    Cynthia S. Gubbels, M. E. Rubio-Gozalbo

    2009Fertility and Sterility0 citations Open access

    Semantic Scholar

    Save

15. Reply of the Authors: Measures of ovarian function in galactosemia

    Cynthia S. Gubbels, P. Menheere, M. E. Rubio-Gozalbo

    20090 citations Open access

    Semantic Scholar

    Save