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RAC1 missense mutations cause diverse phenotypes and define Rhopathies as a new group of developmental disorders

Conference paper

Reijnders MRF. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 238 - 238

Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.

Journal article

Heuberger K. et al, (2019), Biochim Biophys Acta Mol Basis Dis, 1865, 1265 - 1272

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.

Journal article

Wempe MF. et al, (2019), J Inherit Metab Dis, 42, 565 - 574

Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.

Journal article

Roberts NA. et al, (2019), Kidney Int, 95, 1138 - 1152

Substrate reduction therapy for inborn errors of metabolism

Journal article

Yue WW. et al, (2019), Emerging Topics in Life Sciences, 3, 63 - 73

Oxidation resistance 1 regulates post-translational modifications of peroxiredoxin 2 in the cerebellum.

Journal article

Svistunova DM. et al, (2019), Free Radic Biol Med, 130, 151 - 162

Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.

Journal article

Haskovic M. et al, (2018), Orphanet J Rare Dis, 13

Palladium-mediated enzyme activation suggests multiphase initiation of glycogenesis.

Journal article

Bilyard MK. et al, (2018), Nature, 563, 235 - 240

Guaiacol as a drug candidate for treating adult polyglucosan body disease.

Journal article

Kakhlon O. et al, (2018), JCI Insight, 3

Zinc(II) binding on human wild-type ISCU and Met140 variants modulates NFS1 desulfurase activity.

Journal article

Fox NG. et al, (2018), Biochimie, 152, 211 - 218

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