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BOUHOUR , Françoise

Last name: BOUHOUR

First name: Françoise

2023 (v1)

Journal article

Metadata-only

Hypersensitivity infusion-associated reactions induced by enzyme replacement therapy in a cohort of patients with late-onset Pompe disease: An experience from the French Pompe Registry

Lessard, Lola E.R. Tard, Céline Salort-Campana, Emmanuelle

Background and objectives: Pompe disease is a rare hereditary glycogen storage disorder due to lysosomal acid alpha-glucosidase deficiency. Enzyme replacement therapy (ERT) is the only available treatment. Infusion-associated reactions (IAR) are challenging since there are no guidelines for ERT rechallenge after a drug hypersensitivity reaction...

Uploaded on: October 11, 2023
March 2020 (v1)

Journal article

Metadata-only

Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

Salort-Campana, Emmanuelle Fatehi, Farzad Beloribi-Djefaflia, Sadia

Molecular defects in type 1 facioscapulohumeral muscular dystrophy (FSHD) are caused by a heterozygous contraction of the D4Z4 repeat array from 1 to 10 repeat units (RUs) on 4q35. This study compared (1) the phenotype and severity of FSHD1 between patients carrying 6-8 vs. 9-10 RUs, (2) the amount of methylation in different D4Z4 regions...

Uploaded on: December 4, 2022