Publications by authors named "Verloo Patrick"

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Genetic Basis of Hypsarrhythmia: Expanding the PHACTR1 Spectrum and Pathway to Targeted Therapy.
Karen Willième, Annelies Dheedene, Arnaud Vanlander, Patrick Verloo, Helene Verhelst

Clin Genet· November 2025

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Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.
Mylène Donge, Sandrine Marie, Amandine Pochet, Lionel Marcelis, Geraldine Luis, Patrick Verloo

Int J Neonatal Screen· July 2025

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Concomitant Treatment With Lumasiran and Nedosiran in a Child With Primary Hyperoxaluria Type 1.
Eline Braekman, Ann Raes, Ruth De Bruyne, Patrick Verloo, Agnieszka Prytula

Kidney Int Rep· February 2025

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Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.
Marisa I Mendes, Nicole I Wolf, Joëlle Rudinger-Thirion, Dominic Lenz, Magali Frugier, Patrick Verloo

Nucleic Acids Res· December 2024

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Nutrient Status and Intakes of Adults with Phenylketonuria.
Eva Venegas, Simone Langeveld, Kirsten Ahring, Rosa Benitez, An Desloovere, Patrick Verloo

Nutrients· August 2024

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ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Celeste Milani, Adamantia Deligiannopoulou, Patrick Verloo

Genet Med· December 2023

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Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
Leslie Naesens, Josephine Nemegeer, Filip Roelens, Lore Vallaeys, Marije Meuwissen, Patrick Verloo

J Clin Immunol· July 2022

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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Patrick Verloo

Orphanet J Rare Dis· May 2022

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Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
Hannes Syryn, Anne Hoorens, Tassos Grammatikopoulos, Maesha Deheragoda, Sofie Symoens, Patrick Verloo

Clin Genet· October 2021

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Successful liver transplantation in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Case report.
Pauline De Bruyne, Patrick Verloo, Johan L K Van Hove, Bernard de Hemptinne, Saskia Vande Velde

Pediatr Transplant· September 2021

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Towards an Algorithm-Based Tailored Treatment of Acute Neonatal Hyperammonemia.
Sunny Eloot, Jonathan De Rudder, Patrick Verloo, Evelyn Dhont, Ann Raes

Toxins (Basel)· July 2021

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Galactokinase deficiency: lessons from the GalNet registry.
M Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, Uta Meyer, Dorothea Möslinger, Patrick Verloo

Genet Med· January 2021

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Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly.
Katrien Stouffs, Patrick Verloo, Stefanie Brock, Luc Régal, Diane Beysen

Front Genet· February 2020

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TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.
Elizabeth Jennions, Carola Hedberg-Oldfors, Anna-Karin Berglund, Gittan Kollberg, Carl-Johan Törnhage, Patrick Verloo

J Inherit Metab Dis· September 2019

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Clinical implementation of gene panel testing for lysosomal storage diseases.
Alexander Gheldof, Sara Seneca, Katrien Stouffs, Willy Lissens, Anna Jansen, Patrick Verloo

Mol Genet Genomic Med· February 2019

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Recurrent arterial ischemic stroke with good response to mycophenolate mofetil.
Benedikte Van Driessche, Patrick Verloo, Nele Herregods, Veerle Mondelaers, Joke Dehoorne

Eur J Paediatr Neurol· January 2019

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A child presenting with severe hypertension and circulatory failure, a diagnostic conundrum: Questions.
Werner Keenswijk, Patrick Verloo, Johan Vande Walle

Pediatr Nephrol· November 2017

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A child presenting with severe hypertension and circulatory failure-a diagnostic conundrum: Answers.
Werner Keenswijk, Patrick Verloo, Johan Vande Walle

Pediatr Nephrol· November 2017

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Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.
Lucas Bonafede, Can H Ficicioglu, Leona Serrano, Grace Han, Jessica I W Morgan, Patrick Verloo

Invest Ophthalmol Vis Sci· December 2015

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Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication.
Sabine Verbeek, Olivier Vanakker, Rudy Mercelis, A F Lipka, Filomeen Haerynck, Patrick Verloo

Eur J Paediatr Neurol· May 2014

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Hypocretin-1 deficiency in a girl with ROHHAD syndrome.
Karlien Dhondt, Patrick Verloo, Hélène Verhelst, Rudy Van Coster, Sebastiaan Overeem

Pediatrics· September 2013

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Hashimoto encephalopathy and antibodies against dimethylargininase-1: a rare cause of cognitive decline in a pediatric Down's syndrome patient.
Verhelst Helene, Verloo Patrick, De Paepe Boel, Beatrice Gini, Bonetti Bruno

Clin Neurol Neurosurg· October 2011

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Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA cluster.
Helene Verhelst, Patrick Verloo, Karlien Dhondt, Boel De Paepe, Björn Menten

Eur J Paediatr Neurol· March 2011

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Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.
Frank Roels, Patrick Verloo, François Eyskens, Baudouin François, Sara Seneca

BMC Clin Pathol· June 2009

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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Patrick Verloo

N Engl J Med· October 2008

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