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Nicole van Bergen's highlights
FEATURED Journal article
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Read moreNicole van Bergen's selected work
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ata..
Journal article
CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-trac..
Journal article
Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or N..
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Reply: Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-d..
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Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitoch..
Journal article
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket prote..
Journal article
Nicole van Bergen's selected work
Scholarly Works
Displaying the 10 most recent scholarly works from 52 for Nicole van Bergen.
Credentials
Positions
Honorary
Paediatrics Royal Children's Hospital
Education
Doctor of Philosophy
University of Melbourne
Bachelor of Science (Hons Biochem)
La Trobe University