Ghent University Academic Bibliography

Journal Article
A1
open access

Pregnancy-related issues in rare and low-prevalence diseases : results of ERN transversal working group on pregnancy and family planning survey

Dina Zucchi, Diana Marinello, Chiara Tani, Giovanni Fulvio, Silvia Aguilera, Alexandra Benachi, Ruth Biller, Ignacio Blanco, Petra Borgards, Marie-Claude Boiteux, et al.

(2025) ORPHANET JOURNAL OF RARE DISEASES. 20(1).

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Journal Article
A1
open access

Employment and work ability in individuals living with rare diseases : a systematic literature review

Nicolas Bougas, Terhi Kangas, Katrien Vanthomme (UGent) , Jose Joaquín Mira Solves, Gaël Brulé, Helene Mellerio, Hadewijch Vandenheede and Agnes Dumas

(2025) ORPHANET JOURNAL OF RARE DISEASES. 20(1).

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Journal Article
A1
open access

A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years

Claudia Cruz Oliveira, Periklis Charalampous, Julien Delaye, Diana Alecsandra Grad, Pavel Kolkhir, Enkeleint A. Mechili, Brigid Unim, Brecht Devleesschauwer (UGent) and Juanita A. Haagsma

(2024) ORPHANET JOURNAL OF RARE DISEASES. 19(1).

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Journal Article
A1
open access

Patients, payers and developers of Orphan Medicinal Products : lessons learned from 10 years' multistakeholder dialogue on improving access in Europe via MoCA

Maria Cavaller Bellaubi (UGent) , Wills Hughes‑Wilson, Šárka Kubinová, Marc Van de Casteele, Evert Jan Van Lente, Emanuele Degortes, Johan Pontén, Hans‑Georg Eichler, Yann Le Cam, Simone Boselli, et al.

(2023) ORPHANET JOURNAL OF RARE DISEASES. 18(1).

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Journal Article
A1
open access

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

Ewa Sieliwonczyk, Maaike Alaerts, Eline Simons, Dirk Snyders, Aleksandra Nijak, Bert Vandendriessche, Dorien Schepers, Dogan Akdeniz, Emeline Van Craenenbroeck, Katleen Knaepen, et al.

(2023) ORPHANET JOURNAL OF RARE DISEASES. 18(1).

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Journal Article
A1
open access

Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients : a national registry study

Saku Pelttari, Suvi Vaaramaki, Olivier Vanakker (UGent) , Shana Verschuere (UGent) , Hannu Uusitalo, Heini Huhtala, Tero Hinkka, Ilkka Porsti and I Nevalainen, Pasi

(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).

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A1
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A multidisciplinary care pathway improves quality of life and reduces pain in patients with fibrous dysplasia/McCune-Albright syndrome : a multicenter prospective observational study

Maartje E. Meier, Marlous Hagelstein-Rotman, Annenienke C. van de Ven, Ingrid C. M. van der Geest, Olav Donker, Sarina E. C. Pichardo, Petra C. E. Hissink Muller, Stijn W. van der Meeren, Desirée Dorleijn (UGent) , Elizabeth M. Winter, et al.

(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).

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Journal Article
A1
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Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika Schuermans (UGent) , Dimitri Hemelsoet (UGent) , Wim Terryn, Sanne Steyaert (UGent) , Rudy Van Coster (UGent) , Paul Coucke (UGent) , Wouter Steyaert, Bert Callewaert (UGent) , Elke Bogaert (UGent) , PATRICK VERLOO (UGent) , et al.

(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).

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Journal Article
A1
open access

Rare manifestations and malignancies in tuberous sclerosis complex : findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

Matthias Sauter, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume B. D'Augeres, Petrus J. de Vries, et al.

(2021) ORPHANET JOURNAL OF RARE DISEASES. 16(1).

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A1
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Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

Penelope J. Ireland, Ravi Savarirayan, Tash Pocovi, Tracy Tate, Marie Coussens (UGent) , Louise Tofts, Craig Munns and Verity Pacey

(2021) ORPHANET JOURNAL OF RARE DISEASES. 16(1).

Academic Bibliography

Pregnancy-related issues in rare and low-prevalence diseases : results of ERN transversal working group on pregnancy and family planning survey

Employment and work ability in individuals living with rare diseases : a systematic literature review

A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years

Patients, payers and developers of Orphan Medicinal Products : lessons learned from 10 years' multistakeholder dialogue on improving access in Europe via MoCA

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

Various vascular malformations are prevalent in Finnish pseudoxanthoma elasticum (PXE) patients : a national registry study

A multidisciplinary care pathway improves quality of life and reduces pain in patients with fibrous dysplasia/McCune-Albright syndrome : a multicenter prospective observational study

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Rare manifestations and malignancies in tuberous sclerosis complex : findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

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