Results 151 to 160 of about 1,516 (160)

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

Molecular Genetics and Metabolism
Anna-Maria Wiesinger, Georg Zimmermann, Wanda Lauth, Nicole M. Muschol, Dorothea Möslinger, Vasiliki Konstantopoulou, Dorothea Möeslinger, Daniela Karall, Roberto Giugliani, Eugen Mengel, Daniel Weghuber, Florian Lagler   +11 more
openaire   +1 more source

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

Molecular Genetics and Metabolism
Petra Oliva, Thomas P. Mechtler, Jake Scott, Maja Gasparic, Stefaan Sansen, Joan Keutzer, Berthold Streubel, Moeenaldeen Al Sayed, David C. Kasper   +8 more
openaire   +1 more source

Efficacy and Safety of Olipudase Alfa for the Treatment of Acid Sphingomyelinase Deficiency ( ASMD ): A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics, Part A
Paulo V Z Ribeiro, Giovanna Giovacchini Dos Santos, Albuquerque Alb   +2 more
exaly  

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

Pneumologie
V Kapetanakis
exaly  

Interstitial lung involvement in Acid Sphingomyelinase deficit (ASMD): clinical case series.

Rare ILD/DPLD
Marta Garcia Moyano, Leticia Ceberio Hualde, Gorka De Frutos, Ana Villar, Jordi Costa I Colomer, Raquel Pérez Rojo   +5 more
openaire   +1 more source

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

Molecular Genetics and Metabolism
Magali Pettazzoni, Eva Theophile, Cecile Acquaviva, Roseline Froissart   +3 more
openaire   +1 more source

Case report: Treatment of the severe ASMD phenotype with olipudase alfa and JZP-150

Molecular Genetics and Metabolism
Justin Hopkin, Steven Laffoon, Joy Chen, Sophia Abner   +3 more
openaire   +1 more source

A Prospective and Retrospective Cohort Study in Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD)

Case Medical Research, 2019
openaire   +1 more source

RECOMBINANT HUMAN ACID SPHINGOMYELINASE FOR USE IN TREATING HUMAN ASMD

2019
CHUANG WEI-LIEN, COX GERALD F, ZHANG X KATE   +2 more
openaire   +1 more source

ASMD

exaly