Acid sphingomyelinase deficiency in France: a retrospective survival study

This study illustrated a substantial burden of illness with high mortality rates in patients with ASMD, including adults with ASMD type B, in France.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2024-08-05
DOI
https://doi.org/10.1186/s13023-024-03234-6
Citations
6
Primary Topic
Lysosomal Storage Disorders Research
Type
article
Field-Weighted Citation Impact
1.96

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article

Acid sphingomyelinase deficiency in France: a retrospective survival study

Ruth Pulikottil-Jacob, Chloé Stavris, Fernando Laredo, P. Cathébras et al.
6 citations
Orphanet Journal of Rare Diseases
Lysosomal Storage Disorders Research
1.96
article

Acid sphingomyelinase deficiency in France: a retrospective survival study

Ruth Pulikottil-Jacob, Chloé Stavris, Fernando Laredo, P. Cathébras, Y. Uzunhan, Nadia Belmatoug, Bertrand Lioger, Olivier Lidove, Roseline Froissart, Nathalie Guffon, Jérémy Keraen, Marc Berger, E. Berthoux, Christian Lavigne, Vincent Grobost, F. Schlemmer, Marie‐Thérèse Abi‐Warde, Martin Michaud, Thierry Levade, Didier Lacombe, Claire Merlot, Wladimir Mauhin, Bénédicte Héron, Aurélie Cabannes‐Hamy, Fabrice Camou, Anas Mehdaoui, Alice Kuster, Aymeric Duvivier, Amélie Servettaz, Aline Cano, Samia Pichard, Marie T. Vanier, Claire Douillard, S. Trouillier, Martine-Louise Reynaud-Gaubert
article en
6 citations

Abstract

This study illustrated a substantial burden of illness with high mortality rates in patients with ASMD, including adults with ASMD type B, in France.

Orphanet Journal of Rare DiseasesVol. 19(1)
Hôpital Necker-Enfants Malades (FR), Université Toulouse III - Paul Sabatier (FR), Inserm (FR), Université Paris Cité (FR), Université de Lille (FR), Hôpital Beaujon (FR), Sanofi (France) (FR), Sorbonne Université (FR), Centre de Recherches en Cancérologie de Toulouse (FR), Université Sorbonne Paris Nord (FR), Assistance Publique – Hôpitaux de Paris (FR), Hospices Civils de Lyon (FR), Fédération Hospitalo-Universitaire, Paris Center for Microbiome Medicine (FR), Bordeaux Population Health (FR), Groupe Hospitalier Diaconesses Croix Saint-Simon (FR), Sanofi (Brazil) (BR), Sanofi (United Kingdom) (GB), Maladies Rares: Génétique et Métabolisme (FR), Université d'Angers (FR)
Sanofi
Good health and well-being
Openalex Percentile: Top 13%
Lysosomal Storage Disorders Research
1.96
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