The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency

Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder caused by pathogenic variants in the SMPD1 gene causing low or absent activity of the enzyme acid sphingomyelinase, resulting in subsequent accumulation of its substrate, sphingomyelin. Signs and symptoms of excessive lys...

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Egile Nagusiak:	Monica Kumar, Mario Aguiar, Andreas Jessel, Beth L. Thurberg, Lisa Underhill, Holly Wong, Kelly George, Vanessa Davidson, Edward H. Schuchman
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Elsevier 2024-01-01
Saila:	Genetics in Medicine Open
Gaiak:	Acid sphingomyelinase deficiency type A/B Acid sphingomyelinase deficiency type B Chronic acid sphingomyelinase deficiency Lyso-sphingomyelin Lysosomal storage disorder
Sarrera elektronikoa:	http://www.sciencedirect.com/science/article/pii/S2949774424010343
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