Patrick Verloo
Gent, VLG 9000, Belgium
Last Updated: 09/26/2026
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Found 25 publications
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.
Journal: International journal of neonatal screening
Published: May 08, 2025
Genetic Basis of Hypsarrhythmia: Expanding the PHACTR1 Spectrum and Pathway to Targeted Therapy.
Journal: Clinical genetics
Published: March 31, 2025
Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype.
Journal: JIMD reports
Published: January 24, 2025
Concomitant Treatment With Lumasiran and Nedosiran in a Child With Primary Hyperoxaluria Type 1.
Journal: Kidney international reports
Published: December 02, 2024
Familial chylomicronemia syndrome: a novel mutation in the lipoprotein lipase gene.
Journal: Acta gastro-enterologica Belgica
Published: August 30, 2024
Nutrient Status and Intakes of Adults with Phenylketonuria.
Journal: Nutrients
Published: July 26, 2024
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.
Journal: Nucleic acids research
Published: June 10, 2024
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 12, 2023
Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Journal: Orphanet journal of rare diseases
Published: December 17, 2021
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.
Journal: Journal of clinical immunology
Published: October 06, 2021
Towards an Algorithm-Based Tailored Treatment of Acute Neonatal Hyperammonemia.
Journal: Toxins
Published: May 03, 2021
Two cases of DCDC2-related neonatal sclerosing cholangitis with developmental delay and literature review.
Journal: Clinical genetics
Published: January 26, 2021
Last Updated: 09/26/2026