Ghent University Academic Bibliography

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Pharmaceutical compounding of orphan active ingredients in Belgium : how community and hospital pharmacists can address the needs of patients with rare diseases

Valérie Vanhoorne (UGent) , E Peeters, Inge Van Tongelen (UGent) , Koen Boussery (UGent) , Evelien Wynendaele (UGent) , Bart De Spiegeleer (UGent) , Jean Paul Remon (UGent) and Chris Vervaet (UGent)

(2019) ORPHANET JOURNAL OF RARE DISEASES. 14.
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Research activity and capability in the European reference network MetabERN

Jean-Michel Heard, Cinzia Bellettato, Corine van Lingen, Maurizio Scarpa, the MetabERN collaboration group and Rudy Van Coster (UGent)

(2019) ORPHANET JOURNAL OF RARE DISEASES. 14.
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The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review

Marlies Colman (UGent) , Tim Van Damme (UGent) , Elisabeth Steichen-Gersdorf, Franco Laccone, Sheela Nampoothiri, Delfien Syx (UGent) , Brecht Guillemyn (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2019) ORPHANET JOURNAL OF RARE DISEASES. 14.
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European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Infrid MBH van de Laar, Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, Janneke Timmermans, Jolien Roos-Hesselink, Kalman Benke, et al.

(2019) ORPHANET JOURNAL OF RARE DISEASES. 14.
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Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

Elise Vantroys (UGent) , Joél Smet (UGent) , Arnaud Vanlander (UGent) , Sarah Vergult (UGent) , Ruth De Bruyne (UGent) , Frank Roels (UGent) , Hedwig Stepman (UGent) , Herbert Roeyers (UGent) , Björn Menten (UGent) and Rudy Van Coster (UGent)

(2018) ORPHANET JOURNAL OF RARE DISEASES. 13.
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?

Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, Manuel Schiff, Tobias B Haack, Agnes Rötig, Anna Ardissone, Anne Lombès, Claudia B Catarino, Daria Diodato, et al.

(2018) ORPHANET JOURNAL OF RARE DISEASES. 13.
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TSC-associated neuropsychiatric disorders (TAND) : findings from the TOSCA natural history study

Petrus J de Vries, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guiillaume B d'Augères, Jose C Ferreira, et al.

(2018) ORPHANET JOURNAL OF RARE DISEASES. 13.
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KH176 under development for rare mitochondrial disease : a first in man randomized controlled clinical trial in healthy male volunteers

Saskia Koene, Edwin Spaans, Lucas Van Bortel (UGent) , Griet Van Lancker (UGent) , Brant Delafontaine (UGent) , Fabio Badilini, Julien Beyrath and Jan Smeitink

(2017) ORPHANET JOURNAL OF RARE DISEASES. 12.
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An innovative and collaborative partnership between patients with rare disease and industry-supported registries : the Global aHUS Registry

Len Woodward, Sally Johnson, Johan Vande Walle (UGent) , Joran Beck, Christoph Gasteyger, Christoph Licht and Gema Ariceta

(2016) ORPHANET JOURNAL OF RARE DISEASES. 11.
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Phenotypic and molecular insights into CASK-related disorders in males

Ute Moog, Tatjana Bierhals, Kristina Brand, Jan Bautsch, Saskia Biskup, Thomas Brune, Jonas Denecke, Christine E de Die-Smulders, Christina Evers, Maja Hempel, et al.

(2015) ORPHANET JOURNAL OF RARE DISEASES. 10.

Academic Bibliography

Pharmaceutical compounding of orphan active ingredients in Belgium : how community and hospital pharmacists can address the needs of patients with rare diseases

Research activity and capability in the European reference network MetabERN

The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?

TSC-associated neuropsychiatric disorders (TAND) : findings from the TOSCA natural history study

KH176 under development for rare mitochondrial disease : a first in man randomized controlled clinical trial in healthy male volunteers

An innovative and collaborative partnership between patients with rare disease and industry-supported registries : the Global aHUS Registry

Phenotypic and molecular insights into CASK-related disorders in males

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