1. Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features. Issue 9 (7th May 2021) Authors: İnci, Aslı; Cengiz, Başak; Biberoğlu, Gürsel; Okur, İlyas; Arhan, Ebru; Öner, Ali Yusuf; Kasapkara, Çiğdem Seher; Küçükçongar, Aynur; Tümer, Leyla; Ezgu, Fatih Other Names: Burkardt Deepika D'Cunha guestEditor.; Sanchez‐Lara Pedro A guestEditor.; Girisha Katta M guestEditor.; Carey John C guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 9(2021) Page Start: 2739 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. Issue 10 (10th October 2020) Authors: Hughes, Derralynn A; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; ... Journal: BMJ open Issue: Volume 10:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. Issue 10 (10th October 2020) Authors: Hughes, Derralynn A; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; ... Journal: BMJ open Issue: Volume 10:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. Issue 10 (10th October 2020) Authors: Hughes, Derralynn A; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; ... Journal: BMJ open Issue: Volume 10:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. Issue 10 (10th October 2020) Authors: Hughes, Derralynn A; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; ... Journal: BMJ open Issue: Volume 10:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. Issue 10 (10th October 2020) Authors: Hughes, Derralynn A; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; ... Journal: BMJ open Issue: Volume 10:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. Issue 10 (10th October 2020) Authors: Hughes, Derralynn A; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; ... Journal: BMJ open Issue: Volume 10:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. Issue 10 (10th October 2020) Authors: Hughes, Derralynn A; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; ... Journal: BMJ open Issue: Volume 10:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. Issue 10 (10th October 2020) Authors: Hughes, Derralynn A; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; ... Journal: BMJ open Issue: Volume 10:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. Issue 10 (10th October 2020) Authors: Hughes, Derralynn A; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; ... Journal: BMJ open Issue: Volume 10:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗