Research Explorer

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Researcher

Patrick Verloo

Publications & Research Data

Awards & Distinctions

27 Results

2025

Concomitant treatment with lumasiran and nedosiran in a child with primary hyperoxaluria type 1

Eline BraekmanAnn RaesRuth De BruynePATRICK VERLOOAgnieszka Prytula-Ebels

A1 Journal Article in KIDNEY INTERNATIONAL REPORTS

Genetic basis of hypsarrhythmia : expanding the PHACTR1 spectrum and pathway to targeted therapy

Karen WillièmeAnnelies DheedeneArnaud VanlanderPATRICK VERLOOHelene Verhelst

A1 Journal Article in CLINICAL GENETICS

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

Yoni AelvoetPATRICK VERLOOArnaud VanlanderSaskia Vande VeldeStephanie Van BiervlietPauline De BruyneLevi HosteAnnelies DheedeneLore PottieAnne Hoorens et al.

A2 Journal Article in JIMD REPORTS

Palliative care for children and adults with inherited metabolic disease in Europe : an underutilised service for supportive treatment and care

Anja LeeYngve Thomas BliksrudMichela OnaliJulia NeugebauerFrancois EyskensDorothea HaasKarin MosslerAntije EnekweBeata Kiec‐WilkLien My Diep et al.

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

2024

Familial chylomicronemia syndrome : a novel mutation in the lipoprotein lipase gene

Stephanie Van BiervlietSaskia Vande VeldePauline De BruyneBert CallewaertPATRICK VERLOORuth De Bruyne

A1 Journal Article in ACTA GASTRO-ENTEROLOGICA BELGICA

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

Nika SchuermansSalima El ChehadehDimitri HemelsoetJeremie GautheronMarie-Christine VantyghemSonia NouiouaMeriem TazirCorinne VigourouxMartine AuclairElke Bogaert et al.

Nutrient status and intakes of adults with phenylketonuria

Eva VenegasSimone LangeveldKirsten AhringRosa BenitezAn DesloovereElena DiosEva GómezAlvaro HermidaCyril MarsauxPATRICK VERLOO et al.

A1 Journal Article in NUTRIENTS

Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS

Marisa MendesNicole WolfJoelle Rudinger-ThirionDominic LenzMagali FrugierPATRICK VERLOOHanna MandelJoshua ManorRachel KasselWillemijn E. Corpeleijn et al.

A1 Journal Article in NUCLEIC ACIDS RESEARCH

2023

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

Elena PoggioLucia BarazzuolAndrea SalmasoCeleste MilaniAdamantia DeligiannopoulouÁngeles García CazorlaSe Song JangNatalia Juliá-PalaciosBoris KerenRobert Kopajtich et al.

A1 Journal Article in GENETICS IN MEDICINE

EpiCare@Home : remote wearable seizure monitoring for people with epilepsy can improve delivery of care

J. NysW. HarveyB. De RidderN. ZablerG. FonteynJ. DelbecqC. DepondtR. El TahryS. Ferrao SantosS. Weckhuysen et al.

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

Steven CallensBart DermautFilomeen HaerynckDimitri HemelsoetLeslie NaessensBruce PoppeSanne SteyaertWim TerrynArnaud VanlanderPATRICK VERLOO et al.

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

Nika SchuermansSalima El ChehadehDimitri HemelsoetJérémie GautheronMarie-Christine VantyghemSonia NouiouaMeriem TazirCorinne VigourouxMartine AuclairElke Bogaert et al.

A1 Journal Article in NATURE GENETICS

2022

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika SchuermansDimitri HemelsoetWim TerrynSanne SteyaertRudy Van CosterPaul CouckeWouter SteyaertBert CallewaertElke BogaertPATRICK VERLOO et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

2021

Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review

Hannes SyrynAnne HoorensTassos GrammatikopoulosMaesha DeheragodaSofie SymoensSaskia Vande VeldeStephanie Van BiervlietMyriam Van WinckelPATRICK VERLOOBert Callewaert et al.

A1 Journal Article in CLINICAL GENETICS

2020

Multi-Omics integration for molecular diagnostics of mendelian disorders

R. KopajtichD. SmirnovS. LoipfingerC. MengD. GhezziK. MurayamaJ. A. MayrP. FreisingerD. MetodievA. Rotig et al.

2019

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

E JennionsC Hedberg-OldforsAK BerglundG KollbergCJ TörnhageEA EklundA OldforsPATRICK VERLOOAV VanlanderL De Meirleir et al.

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

2016

RC3H1 mutation with increased ICOS expression causes an autoinflammatory syndrome

Filomeen HaerynckPATRICK VERLOODelfien BogaertJoél SmetArnaud VanlanderMaria Bordon Cueto De BraemHelene VerhelstRudy Van CosterBjörn MentenMelissa Dullaers

Subcomplexes of complex V in a patient with Perrault syndrome due to pathogenic mutations in C10orf2

PATRICK VERLOOJoél SmetElise VantroysArnaud VanlanderSarah VergultTom SanteBjörn MentenRudy Van Coster

2015

Cobalamin C deficiency shows a rapidly progressing maculopathy with severe photoreceptor and Ganglion cell loss

L BonafedeCH FiciciogluL SerranoG HanJI MorganMD MillsBJ ForbesSL DavidsonG BinenbaumPB Kaplan et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

2008

Need for early recognition and aggressive treatment of rhabdomylosis

Evelyn DhontAnn VerrijcktPatrick Van de VoordeJohan Vande WallePATRICK VERLOO

Prevalence of (potentially) BH4 responsive mutations in PKU patients from Ghent, Belgium

PATRICK VERLOOL. De Meirleir

2007

Electrophysiological studies of malaria parasite-infected erythrocytes : current status

Henry M. StainesAbdulnaser AlkhalilRichard J. AllenHugo R. De JongeElvira DerbyshireStéphane EgéeHagai GinsburgDavid A. HillStephan M. HuberKiaran Kirk et al.

A1 Journal Article in INTERNATIONAL JOURNAL FOR PARASITOLOGY

Liver transplantation cures biochemical defects in a boy with hyperammonemia-hyperornithinemia-homocitrullinuria (HHH syndrome)

PATRICK VERLOOL DE MEIRLEIRJ VAN HOVEStephanie Van BiervlietMyriam Van Winckel

Mucopolysaccharidosis type II (Hunter disease) presenting as neonatal pulmonary glycogenosis

PATRICK VERLOOL. De Meirleir

Stem cell transplantation for lysosomal storage diseases : the Ghent experience

PATRICK VERLOOL DE MEIRLEIRCR VANGenevieve LaureysCatharina DhoogeMaria Bordon Cueto De Braem

2006

Mitochondrial mosaics in the liver of patients with Pearson and Alpers-Huttenlocher syndromes

Frank RoelsPATRICK VERLOOS SENECAVALERIE MEERSSCHAUTF EYSKENSJoél SmetJJ MARTINMarleen PraetRudy Van Coster

2004

Plasmodium falciparum-activated chloride channels are defective in erythrocytes from cystic fibrosis patients

PATRICK VERLOOClemens H.M. KockenAnnemarie Van der WelBen C. TillyBoris M. HogemaMaarten SinaasappelAlan W. ThomasHugo R. De Jonge

A1 Journal Article in JOURNAL OF BIOLOGICAL CHEMISTRY