Results 181 to 190 of about 3,491 (198)

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

Molecular Genetics and Metabolism, 2020
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
Melissa P Wasserstein, George A Diaz, Robin H Lachmann   +2 more
exaly  

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

Healthcare Service Use Patterns Among Patients with Acid Sphingomyelinase Deficiency Type B: A Retrospective US Claims Analysis

Advances in Therapy, 2023
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

Olipudase alfa approved for pediatric and adult patients with acid sphingomyelinase deficiency (ASMD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine Open, 2023
exaly  

Использование методики ASMD-FSMD при проектировании на программируемых логических интегральных схемах устройств обработки сигналов

Радиотехника и электроника, 2021
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

[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

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