Publications by authors named "P Verloo"

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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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Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype.
Y Aelvoet, P Verloo, A Vanlander, S Vande Velde, S Van Biervliet

JIMD Rep· May 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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