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.
Authors
- Ruth Pulikottil-Jacob (ORCID: https://orcid.org/0000-0003-0630-960X)
- Chloé Stavris
- Fernando Laredo
- P. Cathébras (ORCID: https://orcid.org/0000-0001-7570-3366)
- Y. Uzunhan (ORCID: https://orcid.org/0000-0002-1607-1407)
- Nadia Belmatoug (ORCID: https://orcid.org/0000-0002-7917-741X)
- Bertrand Lioger (ORCID: https://orcid.org/0000-0002-0334-9553)
- Olivier Lidove (ORCID: https://orcid.org/0000-0003-4847-7839)
- Roseline Froissart
- Nathalie Guffon (ORCID: https://orcid.org/0000-0002-3052-2366)
- Jérémy Keraen
- Marc Berger (ORCID: https://orcid.org/0000-0003-1858-0587)
- E. Berthoux (ORCID: https://orcid.org/0000-0003-4889-5352)
- Christian Lavigne (ORCID: https://orcid.org/0000-0002-2538-0076)
- Vincent Grobost (ORCID: https://orcid.org/0009-0003-5352-7949)
- F. Schlemmer (ORCID: https://orcid.org/0000-0003-2113-7113)
- Marie‐Thérèse Abi‐Warde
- Martin Michaud (ORCID: https://orcid.org/0000-0003-1461-7733)
- Thierry Levade (ORCID: https://orcid.org/0000-0003-3793-2584)
- Didier Lacombe (ORCID: https://orcid.org/0000-0002-8956-2207)
- Claire Merlot
- Wladimir Mauhin (ORCID: https://orcid.org/0000-0003-4463-9757)
- Bénédicte Héron (ORCID: https://orcid.org/0000-0002-7707-4521)
- Aurélie Cabannes‐Hamy (ORCID: https://orcid.org/0000-0002-6064-3783)
- Fabrice Camou (ORCID: https://orcid.org/0000-0003-4715-224X)
- Anas Mehdaoui
- Alice Kuster
- Aymeric Duvivier
- Amélie Servettaz
- Aline Cano
- Samia Pichard
- Marie T. Vanier
- Claire Douillard (ORCID: https://orcid.org/0000-0002-5714-1600)
- S. Trouillier
- Martine-Louise Reynaud-Gaubert
Institutions
- 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)
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
Funders
- Sanofi