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Ronit Chafai

Centre Hospitalier de Luxembourg

9

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108

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

2019
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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).

2013 European Journal of Paediatric Neurology
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P263 - Syndrome métabolique et inflammation chez l’enfant. Prendre en charge le poids pour mieux gérer le risque ? Exemple de l’étude OSPEL (Obésité et Surcharge Pondérale de l’Enfant au Luxembourg)

2011 Diabetes & Metabolism
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52 Does Multidisciplinary Group Therapy Improve Outcome in Overweight/Obese Children and Adolescents?

2010 Pediatric Research
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Diagnostic de l’obésité chez l’enfant au Grand-duché de Luxembourg : évaluation anthropométrique de la masse grasse corporelle totale et de sa répartition viscérale

2008 Revue D Epidemiologie Et De Sante Publique
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SALL1 Mutation Analysis in Townes-Brocks Syndrome: Twelve Novel Mutations and Expansion of the Phenotype

2005 Human Mutation
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Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22.

2000 Genetic Counseling
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Citations (11)