Results 201 to 203 of about 10,325 (203)

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

Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency: The utility of animal models of disease in the toxicological evaluation of potential therapeutics

Molecular Genetics and Metabolism, 2015
exaly  

[Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)].

Ryoikibetsu shokogun shirizu, 1998
K, Higaki, K, Ohno
openaire   +1 more source