Results 131 to 140 of about 2,135 (156)

When technology improves diagnosis: Incidental discovery of ASMD in patients suspected with Gaucher disease

Molecular Genetics and Metabolism
Magali Pettazzoni, Eva Theophile, Cécile Acquaviva, R. Froissart   +3 more
semanticscholar   +1 more source

Development and Validation of Machine-learned Algorithms for Diagnosing ASMD Among Patients With Unexplained ILD

American Journal of Respiratory and Critical Care Medicine
I. Noth, F. Bonella, W. Wuyts, P. Boileau, P. Gagnon-Sanschagrin, M. Törnqvist, P. Guilmin, C. Clemente, M. Montmerle, S. Sansen, A. Dumitriu, N. Shah, P. Pavlick, L. King, J. Hull, M. Gasparic   +15 more
semanticscholar   +1 more source

Machine learned decision tree for diagnosis of ASMD among patients with unexplained ILD

European Respiratory Journal, 2023
Stefaan Sansen
exaly  

Design of PROMs and PREMs questionnaire for ASMD care

Molecular Genetics and Metabolism
Jesús Villarrubia, M. Morales-Conejo, Daniel de Vicente, Enrique J Calderón, J. Andrés, Maria C. Rubio, M. Morado, Núria Couto López, O. Solà-Morales, P. Medina, Raquel Pérez Rojo, Sonia M. Quintana   +11 more
semanticscholar   +1 more source

Acid sphingomyelinase deficiency (ASMD) and Niemann-Pick disease type C: Cytologic features of bone marrow and peripheral blood smears can guide the diagnosis

Molecular Genetics and Metabolism
Magali Pettazzoni, Sandrine Girard, C. Pagan, R. Froissart, L. Baseggio   +4 more
semanticscholar   +1 more source

Acid sphingomyelinase deficiency (ASMD): Genotype-phenotype correlation and variant frequency

Molecular Genetics and Metabolism
Petra Oliva, T. Mechtler, Jake Scott, M. Gasparic, S. Sansen, J. Keutzer, B. Streubel, Moeenaldeen Al Sayed, D. Kasper   +8 more
semanticscholar   +1 more source

A suspicion index tool (SIT) to aid diagnosis and treatment of ASMD

Molecular Genetics and Metabolism
Anna-Maria Wiesinger, Georg Zimmermann, W. Lauth, N. Muschol, D. Möslinger, Vasiliki-Ioanna Konstantopoulou, Dorothea Möeslinger, D. Karall, Roberto Giugliani, E. Mengel, D. Weghuber, Florian B. Lagler   +11 more
semanticscholar   +1 more source

Clinical Revalence of Diffusing Lung Capacity for Carbon Monoxide (DLco) in Patients with Acid Sphingomyelinase Disease (ASMD): A Post-hoc Analysis

Pneumologie
F. Bonella, W. Wuyts, M. Scarpa, V. Kapetanakis, P. Shukla, M. Fournier, M. Gasparic, R. Pulikottil-Jacob   +7 more
semanticscholar   +1 more source

Olipudase alfa in adult and pediatric ASMD patients: Interim results from French early access program

Molecular Genetics and Metabolism
Nathalie Guffon, Nadia Belmatoug, Nihal Martis, Christian Lavigne, K. Mazodier, A. Aouba, A. Christophe, Olivier Lidove   +7 more
semanticscholar   +1 more source

ASMD: Schweres Leiden, leicht zu übersehen

MMW, Fortschritte der Medizin
Latha Mani, Grecia Mendoza Rios, A. Gutiérrez, Laila Arash-Kaps, E. Mengel   +4 more
semanticscholar   +1 more source