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Administratie Kindergeneeskunde C. Heymanslaan 10
9000 Gent - PATRICK.VERLOO@UGent.be
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- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
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- Journal Article
- A1
- open access
Galactokinase deficiency : lessons from the GalNet registry
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Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders
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Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review
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- Conference Paper
- C3
- open access
Kinetic modeling as guide for dialysis prescription in acute neonatal hyperammonaemia : an example using CarpeDiem and Fresenius 4008 machine
(2021) BELGIAN JOURNAL OF PAEDIATRICS. In Belgian Journal of Paediatrics 23(Supplement 1). p.231-231 -
Successful liver transplantation in hyperornithinemia–hyperammonemia–homocitrullinuria syndrome : case report
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- Journal Article
- A1
- open access
Recurrent NEDD4L variant in periventricular nodular heterotopia, polymicrogyria and syndactyly
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- Journal Article
- A2
- open access
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation : four new cases and a review of the evidence
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- Journal Article
- A1
- open access
Clinical implementation of gene panel testing for lysosomal storage diseases
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NR4A2 causes an autism spectrum disorder
(2017) EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. In European Journal of Paediatric Neurology 21(Supplement 1). p.e49-e49