Samia Pichard

Paediatric multisystem inflammatory syndrome temporally associated with SARS-CoV-2 mimicking Kawasaki disease (Kawa-COVID-19): a multicentre cohort

Marie Pouletty, Charlotte Borocco, Naïm Ouldali et al. · Annals of the Rheumatic Diseases · 2020 · 551 citations · Full text

Medicine, Infectious Diseases, Pediatrics +16

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero et al. · The American Journal of Human Genetics · 2016 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

Vassili Valayannopoulos, Julien Baruteau, María Bueno Delgado et al. · Orphanet Journal of Rare Diseases · 2016 · 46 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +14

Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency

Frédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire et al. · Orphanet Journal of Rare Diseases · 2015 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Paediatric‐onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis

Blandine Dozières‐Puyravel, Hala Nasser, Monique Elmaleh et al. · Developmental Medicine & Child Neurology · 2019 · 41 citations · Full text

Medicine, Neurology, Neuroscience +9