Acid Ceramidase Deficiency
This study presents the detailed natural history of SMA-PME. Given the rarity of this disease and the current lack of a reliable biomarker for patient follow-up, this work may serve as a retrospective control group for future therapeutic trials.
Authors
- Nicole Chémaly (ORCID: https://orcid.org/0000-0002-2333-9408)
- Capucine de Lattre (ORCID: https://orcid.org/0009-0003-3240-806X)
- Michelle Allen‐Sharpley
- Terence Beghyn (ORCID: https://orcid.org/0000-0001-6096-4475)
- Paul Rollier (ORCID: https://orcid.org/0000-0001-7303-8825)
- Odile Boespflug‐Tanguy (ORCID: https://orcid.org/0000-0003-2389-1232)
- Pedro A. Sanchez‐Lara (ORCID: https://orcid.org/0000-0003-1181-7828)
- Silvestre Cuinat (ORCID: https://orcid.org/0000-0002-0763-5661)
- Camille Moreau
- Thierry Levade (ORCID: https://orcid.org/0000-0003-3793-2584)
- Adrien Paquot (ORCID: https://orcid.org/0000-0002-4784-3510)
- Sandra Mercier (ORCID: https://orcid.org/0000-0002-6627-8748)
- Stéphane Bezieau (ORCID: https://orcid.org/0000-0003-0095-1319)
- Katheryn Grand (ORCID: https://orcid.org/0000-0002-9411-2913)
- Servane de Masfrand
- L. François (ORCID: https://orcid.org/0009-0003-3441-6821)
- Marie T. Vanier (ORCID: https://orcid.org/0000-0001-7249-0238)
Institutions
- Cedars-Sinai Medical Center (US)
- Hôpital Necker-Enfants Malades (FR)
- Centre National de la Recherche Scientifique (FR)
- Université Toulouse III - Paul Sabatier (FR)
- Inserm (FR)
- Université Paris Cité (FR)
- Institut Pasteur de Lille (FR)
- Centre Hospitalier Universitaire de Nantes (FR)
- Hôpital Femme Mère Enfant (FR)
- Centre de Recherches en Cancérologie de Toulouse (FR)
- Sorbonne Paris Cité (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hospices Civils de Lyon (FR)
- Laboratoire de Biochimie (FR)
- Hôpital Robert-Debré (FR)
- Institut du Thorax (FR)
- Centre Hospitalier Universitaire de Rennes (FR)
- NeuroDiderot (FR)
- Nantes Université (FR)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-02-26
- DOI
- https://doi.org/10.1212/nxg.0000000000200243
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 1.16