prof. dr. Arnaud Vanlander

Journal Article
A2
open access

Neonatal cholestasis progressing to a multisystem syndrome with liver cirrhosis in two siblings with FARSA deficiency : an evolving hepatological phenotype

Yoni Aelvoet (UGent) , PATRICK VERLOO (UGent) , Arnaud Vanlander (UGent) , Saskia Vande Velde (UGent) , Stephanie Van Biervliet (UGent) , Pauline De Bruyne (UGent) , Levi Hoste (UGent) , Annelies Dheedene (UGent) , Lore Pottie (UGent) , Anne Hoorens (UGent) , et al.

(2025) JIMD REPORTS. 66(3).

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Congenital myasthenic syndromes in Belgium : genetic and clinical characterization of pediatric and adult patients

Nathalie Smeets, Alexander Gheldof, Bart Dequeker, Margaux Poleur, Sofia Maldonado Slootjes, Vinciane Van Parijs, Nicolas Deconinck, Pauline Dontaine, Alicia Alonso-Jimenez, Jan De Bleecker (UGent) , et al.

(2024) PEDIATRIC NEUROLOGY. 158. p.57-65

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Efficacy of SMA NBS : 4-year comparative study with control group

T. Dangouloff, L. De Waele, D. Beysen, N. Smeets, Arnaud Vanlander (UGent) , N. Benmhammed, C. Tychon, A. Daron, N. Deconinck, P. Dontaine, et al.

(2024) NEUROMUSCULAR DISORDERS. In Neuromuscular Disorders 43(Supplement 1). p.11-12

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Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Cecile Brachet, Alexander Laemmle, Martine Cools (UGent) , Kay-Sara Sauter, Elfride De Baere (UGent) , Arnaud Vanlander (UGent) , Amit V. Pandey, Therina Du Toit, Clarissa D. Voegel, Claudine Heinrichs, et al.

(2024) HORMONE RESEARCH IN PAEDIATRICS. In Hormone Research in Paediatrics 97(Supplement 3). p.61-61

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Journal Article
A1
open access

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Cécile Brachet, Alexander Laemmle, Martine Cools (UGent) , Kay-Sara Sauter, Elfride De Baere (UGent) , Arnaud Vanlander (UGent) , Amit V Pandey, Therina du Toit, Clarissa D Voegel, Claudine Heinrichs, et al.

(2024) EUROPEAN JOURNAL OF ENDOCRINOLOGY. 191(2). p.144-155

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Pathogenicity of mutation in MT-ND1 (m. 3796A>G) in a family with 'Leber Hereditary Optic Neuropathy Plus Phenotype'

Heleen Parmentier, Arnaud Vanlander (UGent) , S. Seneca, Hedwig Stepman (UGent) , Julie De Zaeytijd (UGent) , Bart Dermaut (UGent) and Dimitri Hemelsoet (UGent)

(2023) EUROPEAN JOURNAL OF NEUROLOGY. 30(S1). p.659-660

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From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection

Steven Callens (UGent) , Bart Dermaut (UGent) , Filomeen Haerynck (UGent) , Dimitri Hemelsoet (UGent) , Leslie Naessens, Bruce Poppe (UGent) , Sanne Steyaert (UGent) , Wim Terryn (UGent) , Arnaud Vanlander (UGent) , PATRICK VERLOO (UGent) , et al.

(2023) ACTA CLINICA BELGICA. In Acta Clinica Belgica 78(Supplement 1). p.11-12

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Journal Article
A1
open access

Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

E. Mercuri, A. M. Seferian, L. Servais, N. Deconinck, H. Stevenson, X. Ni, W. Zhang, L. East, S. Yonren, F. Muntoni, et al.

(2023) NEUROMUSCULAR DISORDERS. 33(6). p.476-483

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Journal Article
A1
open access

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Jérémie Gautheron, Marie-Christine Vantyghem, Sonia Nouioua, Meriem Tazir, Corinne Vigouroux, Martine Auclair, Elke Bogaert (UGent) , et al.

(2023) NATURE GENETICS. 55(11). p.1929-1940

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Journal Article
A1
open access

Comparison of SARS-CoV-2 seroconversion in children with chronic diseases with healthy children and adults during the first waves of the COVID-19 pandemic

Levi Hoste (UGent) , Agnieszka Prytula-Ebels (UGent) , Jo Dehoorne (UGent) , Ruth De Bruyne (UGent) , Stephanie Van Biervliet (UGent) , Kathleen De Waele (UGent) , Evelyn Maes (UGent) , Victoria Bordon, Arnaud Vanlander (UGent) , Karlien Claes (UGent) , et al.

(2023) FRONTIERS IN PEDIATRICS. 11.

Academic Bibliography

prof. dr. Arnaud Vanlander

Neonatal cholestasis progressing to a multisystem syndrome with liver cirrhosis in two siblings with FARSA deficiency : an evolving hepatological phenotype

Congenital myasthenic syndromes in Belgium : genetic and clinical characterization of pediatric and adult patients

Efficacy of SMA NBS : 4-year comparative study with control group

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Pathogenicity of mutation in MT-ND1 (m. 3796A>G) in a family with 'Leber Hereditary Optic Neuropathy Plus Phenotype'

From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection

Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Comparison of SARS-CoV-2 seroconversion in children with chronic diseases with healthy children and adults during the first waves of the COVID-19 pandemic

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