Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease...
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
About this item
Full title
Author / Creator
Geberhiwot, Tarekegn , Wasserstein, Melissa , Wanninayake, Subadra , Bolton, Shaun Christopher , Dardis, Andrea , Lehman, Anna , Lidove, Olivier , Dawson, Charlotte , Giugliani, Roberto , Imrie, Jackie , Hopkin, Justin , Green, James , de Vicente Corbeira, Daniel , Madathil, Shyam , Mengel, Eugen , Ezgü, Fatih , Pettazzoni, Magali , Sjouke, Barbara , Hollak, Carla , Vanier, Marie T. , McGovern, Margaret and Schuchman, Edward
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) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There are no published national or international consensus guidelines for the diagnosis and management of patients with ASMD. For these reasons, w...
Alternative Titles
Full title
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
Authors, Artists and Contributors
Author / Creator
Wasserstein, Melissa
Wanninayake, Subadra
Bolton, Shaun Christopher
Dardis, Andrea
Lehman, Anna
Lidove, Olivier
Dawson, Charlotte
Giugliani, Roberto
Imrie, Jackie
Hopkin, Justin
Green, James
de Vicente Corbeira, Daniel
Madathil, Shyam
Mengel, Eugen
Ezgü, Fatih
Pettazzoni, Magali
Sjouke, Barbara
Hollak, Carla
Vanier, Marie T.
McGovern, Margaret
Schuchman, Edward
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_3b60746a318b45afbe6b8545bdc098d5
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3b60746a318b45afbe6b8545bdc098d5
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-023-02686-6
