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, +25

Annals of the Rheumatic Diseases

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, +45

The American Journal of Human Genetics

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, +20

Orphanet Journal of Rare Diseases

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

Frédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, +15

Orphanet Journal of Rare Diseases

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

Blandine Dozières‐Puyravel, Hala Nasser, Monique Elmaleh, +8

Developmental Medicine & Child Neurology

Long-term liver disease in methylmalonic and propionic acidemias

Apolline Imbard, Nuria García Segarra, M. Tardieu, +13

Molecular Genetics and Metabolism

Hepatic DisordersHepatologyLiver PhysiologyPathologyLong-term Liver Disease +4

Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening

Alexandra Bower, Apolline Imbard, Jean‐François Benoist, +4

Scientific Reports

Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort

Bastien Estublier, Aline Cano, Célia Hoebeke, +5

European Journal of Paediatric Neurology

Natural HistoryCerliponase AlfaPathologyFirst French Cohort

Mitochondrial acetoacetyl‐CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

Stéphanie Paquay, Agnès Bourillon, Samia Pichard, +15

Journal of Inherited Metabolic Disease

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome

Alessandra Pennisi, Bruno Maranda, Jean‐François Benoist, +9

Journal of Inherited Metabolic Disease