Ghent University Academic Bibliography

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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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- journalArticle
- A1
- open access
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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- journalArticle
- A1
- open access
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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- journalArticle
- A1
- open access
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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- A1
- open access
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.
Mark
- journalArticle
- A1
- open access
47 patients with FLNA associated periventricular nodular heterotopia

Max Lange, Burkhard Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger, Sabine Hoffjan, Stephanie Spranger, Anne Behnecke, Andreas Ferbert, Andreas Hahn, et al.

(2015) ORPHANET JOURNAL OF RARE DISEASES. 10.
Mark
- journalArticle
- A1
- open access
Gene panel sequencing in heritable thoracic aortic disorders and related entities: results of comprehensive testing in a cohort of 264 patients

Laurence Campens (UGent) , Bert Callewaert (UGent) , Laura Muiño Mosquera (UGent) , Marjolijn Renard (UGent) , Sofie Symoens (UGent) , Anne De Paepe (UGent) , Paul Coucke (UGent) and Julie De Backer (UGent)

(2015) ORPHANET JOURNAL OF RARE DISEASES. 10.
Mark
- journalArticle
- A1
- open access
Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome

Veronique Beauloye, Karlien Dhondt (UGent) , W Buysse, A Nyakasane, F Zech, Jean De Schepper (UGent) , Sara Van Aken (UGent) , Kathleen De Waele (UGent) , Margarita Craen (UGent) , I Gies, et al.

(2015) ORPHANET JOURNAL OF RARE DISEASES. 10.
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- journalArticle
- A1
- open access
Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure

Mieke Boone (UGent) , Anne Smits (UGent) , Harry Cuppens, Martine Jaspers, Marijke Proesmans, Lieven J Dupont, François L Vermeulen, Sabine Van daele (UGent) , Anne Malfroot, Veronique Godding, et al.

(2014) ORPHANET JOURNAL OF RARE DISEASES. 9.
Mark
- journalArticle
- A1
- open access
The health and economic burden of haemophilia in Belgium: a rare, expensive and challenging disease

Séverine Henrard, Brecht Devleesschauwer (UGent) , Philippe Beutels, Michael Callens, Frank De Smet, Cedric Hermans and Niko Speybroeck

(2014) ORPHANET JOURNAL OF RARE DISEASES. 9.

Academic Bibliography

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?

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

47 patients with FLNA associated periventricular nodular heterotopia

Gene panel sequencing in heritable thoracic aortic disorders and related entities: results of comprehensive testing in a cohort of 264 patients

Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure

The health and economic burden of haemophilia in Belgium: a rare, expensive and challenging disease

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