Results 141 to 150 of about 1,516 (160)

Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus

Internal and Emergency Medicine, 2023
Maria Domenica Cappellini, Maurizio Scarpa, Antonio Barbato   +2 more
exaly  

Lungenfibrose bei bekannter ASMD Typ A/B

Klinische Pädiatrie
K Theile, M Herrmann, A Hoffmann, T Lücke, A Wiemers   +4 more
openaire   +1 more source

ASMD (anterior segment mesenchymal dysgenesis)

2008
openaire   +1 more source

Description of the French cohort of ASMD type AB patients

Molecular Genetics and Metabolism
Didier Lacombe, Anais Brassier, Samia Pichard, Marie Therese Abi Warde, Alina Arion, Soumeya Bekri, Catherine Caillaud, Roseline Froissart, Magali Gorce, Thierry Levade, Wladimir Mauhin, Karin Mazodier, Magali Pettazzoni, Manuel Schiff, Marie T. Vanier, Bénédicte Héron, Nathalie Guffon   +16 more
openaire   +1 more source

The impacts of olipudase alfa on adults with ASMD: The patient-reported experience

Molecular Genetics and Metabolism
Conan B. Donnelly, Solomon Mbua, Joslyn Crowe, Justin Hopkin   +3 more
openaire   +1 more source

[ASMD - Acid Sphingo- myelinase Deficiency].

MMW Fortschritte der Medizin
Latha, Mani, Grecia, Mendoza Rios, A, Gutierrez, Laila, Arash-Kaps, Eugen, Mengel   +4 more
openaire   +1 more source

International Niemann-Pick Disease Registry: The characteristics of ASMD and NPC patients

Molecular Genetics and Metabolism, 2020
openaire   +1 more source

First experience with olipudase alfa for ASMD type B in Mexico

Molecular Genetics and Metabolism
Luz Maria Sanchez, Magdalena Ceron Rodriguez   +1 more
openaire   +1 more source

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months

Journal of Inherited Metabolic Disease, 2018
George Diaz, Robin Lachmann, Melissa Wasserstein   +2 more
exaly  

Development of a suspicion index tool to aid diagnosis of ASMD disease

Molecular Genetics and Metabolism
Anna-Maria Wiesinger, Wanda Lauth, Roberto Giugliani, Nicole M. Muschol, Charlotte Aries, Dorothea Moeslinger, Eugen Mengel, Daniel Weghuber, Florian Lagler   +8 more
openaire   +1 more source