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.

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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
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Acid Ceramidase Deficiency

Nicole Chémaly, Capucine de Lattre, Michelle Allen‐Sharpley, Terence Beghyn et al.
1 citations
Neurology Genetics
Lysosomal Storage Disorders Research
1.16
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Acid Ceramidase Deficiency

Nicole Chémaly, Capucine de Lattre, Michelle Allen‐Sharpley, Terence Beghyn, Paul Rollier, Odile Boespflug‐Tanguy, Pedro A. Sanchez‐Lara, Silvestre Cuinat, Camille Moreau, Thierry Levade, Adrien Paquot, Sandra Mercier, Stéphane Bezieau, Katheryn Grand, Servane de Masfrand, L. François, Marie T. Vanier
article en
1 citations

Abstract

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.

Neurology GeneticsVol. 11(2)
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)
Good health and well-being
Openalex Percentile: Top 25%
Lysosomal Storage Disorders Research
1.16
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