Concepedia

Ronit Chafai

RC

Statistics

Publications

3

Citations

145

H-Index

3

Active since

2005

Affiliations

Centre Hospitalier de Luxembourg(Current)

Vrije Universiteit Brussel

Ronit Chafai is an author at Centre Hospitalier de Luxembourg specializing in inherited metabolic disease, medicine, and neurology.

Top concepts

Publications per year

2005–2019

3

Publications

3

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

Elke Botzenhart, Andrew Green, Helena G. Ilyina et al. · Human Mutation · 2005 · 68 citations

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)

Emmanuel Scalais, Ronit Chafai, Rudy Van Coster et al. · European Journal of Paediatric Neurology · 2013 · 65 citations

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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

Emmanuel Scalais, Elise Osterheld, Christine Geron et al. · JIMD Reports · 2019 · 12 citations · Full text

, , +13

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