Acid sphingomyelinase deficiency in France: a retrospective survival study
Acid sphingomyelinase deficiency in France: a retrospective survival study
About this item
Full title
Author / Creator
Mauhin, Wladimir , Guffon, Nathalie , Vanier, Marie T. , Froissart, Roseline , Cano, Aline , Douillard, Claire , Lavigne, Christian , Héron, Bénédicte , Belmatoug, Nadia , Uzunhan, Yurdagül , Lacombe, Didier , Levade, Thierry , Duvivier, Aymeric , Pulikottil-Jacob, Ruth , Laredo, Fernando , Pichard, Samia , Lidove, Olivier , Abi-Wardé, Marie-Thérèse , Berger, Marc , Berthoux, Emilie , Cabannes-Hamy, Aurélie , Camou, Fabrice , Cathebras, Pascal , Grobost, Vincent , Keraen, Jérémy , Kuster, Alice , Lioger, Bertrand , Mehdaoui, Anas , Merlot, Claire , Michaud, Martin , Reynaud-Gaubert, Martine-Louise , Schlemmer, Fréderic , Servettaz, Amélie , Stavris, Chloé , Trouillier, Sébastien and ASSUR Study Group
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Acid sphingomyelinase deficiency (ASMD) or Niemann-Pick disease types A, A/B, and B is a progressive, life-limiting, autosomal recessive disorder caused by sphingomyelin phosphodiesterase 1 (SMPD1) gene mutations. There is a need to increase the understanding of morbidity and mortality across children to adults diagnosed with ASMD.
This observat...
Alternative Titles
Full title
Acid sphingomyelinase deficiency in France: a retrospective survival study
Authors, Artists and Contributors
Author / Creator
Guffon, Nathalie
Vanier, Marie T.
Froissart, Roseline
Cano, Aline
Douillard, Claire
Lavigne, Christian
Héron, Bénédicte
Belmatoug, Nadia
Uzunhan, Yurdagül
Lacombe, Didier
Levade, Thierry
Duvivier, Aymeric
Pulikottil-Jacob, Ruth
Laredo, Fernando
Pichard, Samia
Lidove, Olivier
Abi-Wardé, Marie-Thérèse
Berger, Marc
Berthoux, Emilie
Cabannes-Hamy, Aurélie
Camou, Fabrice
Cathebras, Pascal
Grobost, Vincent
Keraen, Jérémy
Kuster, Alice
Lioger, Bertrand
Mehdaoui, Anas
Merlot, Claire
Michaud, Martin
Reynaud-Gaubert, Martine-Louise
Schlemmer, Fréderic
Servettaz, Amélie
Stavris, Chloé
Trouillier, Sébastien
ASSUR Study Group
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_ab41a96d0cef4ab491a951b59def6bd6
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ab41a96d0cef4ab491a951b59def6bd6
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-024-03234-6
