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Kees Schoonderwoerd

Researcher at Erasmus University Rotterdam

Publications -  47
Citations -  1521

Kees Schoonderwoerd is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Lipase & Lipolysis. The author has an hindex of 23, co-authored 47 publications receiving 1390 citations.

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Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

TL;DR: The data shows that SLC19A3 is a new candidate for mutation screening in patients with Leigh syndrome, who might benefit from high doses of thiamine and/or biotin, and especially, Moroccan patients withLeigh syndrome should be tested for the c.20C>A founder mutation in SLC 19A3.
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Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.

TL;DR: The results indicate that CABC1 is an important candidate for mutation analysis in progressive cerebellar ataxia and atrophy on MRI to identify those patients, who may benefit from CoQ10 treatment.