publication venue for
- The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants Orphanet 2023
- Results of a Patient Reported Experience Measure (PREM) to measure the rare disease patients and caregivers experience: a Spanish cross-sectional study. 67-78. 2021
- Natural history of patients with venous thromboembolism and hereditary hemorrhagic telangiectasia. Findings from the RIETE Registry. . 196-204. 2019
- Differences in immunoreactive trypsin values between type of feeding and ethnicity in neonatal cystic fibrosis screening: a cross-sectional study.. 166-172. 2014
- Ovarian teratoma-associated anti-NMDAR encephalitis: a systematic review of reported cases. 157-166. 2014
- Ovarian teratoma-associated anti-NMDAR encephalitis: a systematic review of reported cases. . 157-166. 2014
- HEREDITARY RENAL ADYSPLASIA. 5-6. 2010
- Hereditary renal adysplasia pulmonary hypoplasia. 1-6. 2010
- Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report. 1-6. 2010
- Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a case report.. 6-12. 2010