Ghent University Academic Bibliography

Your filters: cql: parent exact "Journal of Inherited Metabolic Disease"

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ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes

Silke De Feyter (UGent) , Aude Beyens (UGent) and Bert Callewaert (UGent)

(2023) JOURNAL OF INHERITED METABOLIC DISEASE. 46(2). p.163-173
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Expanded phenotyping by microscopic imaging

Frank Roels (UGent) , PATRICK VERLOO (UGent) , Boel De Paepe (UGent) , Jan De Bleecker (UGent) and Rudy Van Coster (UGent)

(2022) JOURNAL OF INHERITED METABOLIC DISEASE. In Journal of Inherited Metabolic Disease 45(Supplement 1). p.69-69
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Novel medicines can be cheaper

Frank Roels (UGent)

(2022) JOURNAL OF INHERITED METABOLIC DISEASE. In Journal of Inherited Metabolic Disease 45(Supplement 1). p.254-254
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Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency

Katarina Šikić, Tessa M. A. Peters, Eugenija Marušić, Ivana Čulo Čagalj, Danijela Petković Ramadža, Tamara Žigman, Ksenija Fumić, Esperanza Fernandez, Kris Gevaert (UGent) , Željko Debeljak, et al.

(2022) JOURNAL OF INHERITED METABOLIC DISEASE. 45(6). p.1048-1058
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A systematic study of a panel of mitochondrial functional testing in fibroblasts shows strong clinical utility

Johan Van Hove, Marisa Friederich, Kaz Knight, Jessica Lee, Roxanne Van Hove, Austin Larson, Michio Hirano, Russel Saneto, Amy Goldstein, Rebecca Ganetzky, et al.

(2021) JOURNAL OF INHERITED METABOLIC DISEASE. In Journal of inherited metabolic disease 44(S1). p.139-140
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Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa

Miski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, Sergio Guerrero‐Castillo, Daisy Dalloyaux, Sanne Kraaij, Hanka Venselaar, Alexander Hoischen, Zsolt Urban, Ulrich Brandt, et al.

(2020) JOURNAL OF INHERITED METABOLIC DISEASE. 43(6). p.1382-1391
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Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder

Kevin Berendse, Bart GP Koot, Femke CC Klouwer, Marc Engelen, Frank Roels (UGent) , Miangela M Lacle, Peter GJ Nikkels, Joanne Verheij and Bwee Tien Poll‐The

(2019) JOURNAL OF INHERITED METABOLIC DISEASE. 42(5). p.955-965
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TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

E Jennions, C Hedberg-Oldfors, AK Berglund, G Kollberg, CJ Törnhage, EA Eklund, A Oldfors, PATRICK VERLOO (UGent) , AV Vanlander, L De Meirleir, et al.

(2019) JOURNAL OF INHERITED METABOLIC DISEASE. 42(5). p.898-908
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Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ

Rudy Van Coster (UGent) , Joél Smet (UGent) , Boel De Paepe (UGent) , Elise Vantroys, Femke Nachtergaele, Sarah Vergult (UGent) , Björn Menten (UGent) , Arnaud Vanlander (UGent) and François-Guillaume Debray

(2018) J. Inherit. Metab. Dis.. In JOURNAL OF INHERITED METABOLIC DISEASE 41(suppl. 1). p.S153-S153
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The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy

Arnaud Vanlander (UGent) , Helene Verhelst (UGent) , Elise Vantroys, Joél Smet (UGent) , Boel De Paepe (UGent) , Sarah Vergult (UGent) , Björn Menten (UGent) and Rudy Van Coster (UGent)

(2018) J. Inherit. Metab. Dis.. In JOURNAL OF INHERITED METABOLIC DISEASE 41(suppl. 1). p.S156-S156

Academic Bibliography

ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes

Expanded phenotyping by microscopic imaging

Novel medicines can be cheaper

Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl‐CoA transporter deficiency

A systematic study of a panel of mitochondrial functional testing in fibroblasts shows strong clinical utility

Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa

Hepatic symptoms and histology in 13 patients with a Zellweger spectrum disorder

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ

The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy

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