WebBackground: Acid sphingomyelinase deficiency (ASMD) also known as Niemann-Pick disease, is a rare lysosomal storage disorder with a diverse disease spectrum that includes slowly progressive, chronic visceral (type B) and neurovisceral forms (intermediate type A/B), in addition to infantile, rapidly progressive fatal neurovisceral disease (type A). WebDue to the rarity of ASMD and the heterogeneity of its manifestations, ASMD diagnosis may be missed at initial presentation or occur only at advanced stages of disease progression. ASMD should be suspected in patients with hepatosplenomegaly, developmental delay and/or cherry-red maculae (also described as “perifoveal white

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WebOct 25, 2024 · ASMD is a disease spectrum divided into three types: type A, also known as infantile neurovisceral ASMD; type A/B, also known as chronic neurovisceral … WebIl deficit di sfingomielinasi acida (ASMD) è una malattia genetica rara causata dallʼalterazione di un enzima chiamato sfingomielinasi acida (ASM).Storicamente conosciuto come Malattia di Niemann-Pick, lʼASMD si suddivide in 3 tipi - A, A/B e B - che possono avere insorgenza, progressione e sintomi diversi. first pawn grand forks

Acid Sphingomyelinase Deficiency - GeneReviews®

WebAcid sphingomyelinase defi cient Niemann-Pick disease (ASMD) is an extremely rare disorder resulting in potentially life-limiting illnesses in children and young adults It covers … WebAcid sphingomyelinase defi cient Niemann-Pick disease (ASMD) is an extremely rare disorder resulting in potentially life-limiting illnesses in children and young adults It covers a spectrum of conditions and this booklet provides information on ASMD Niemann-Pick disease types A and B, which are two forms of the disease WebMay 10, 2024 · Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder that leads to the accumulation of sphingomyelin (and other lipids) in cells and … first patient with covid 19