McGovern MM, Avetisyan R, Sanson B-J, Lidove O (2017) Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). Orphanet J Rare Dis 12: 41. https://doi.org/10.1186/s13023-017-0572-x
1) Infantile Neurovisceral ASMD (Niemann-Pick Disease Type A) 2) Chronic Neurovisceral ASMD (Niemann-Pick Disease Type A/B) 3) Chronic Visceral ASMD (Niemann-Pick Type B) Get Started Wylder - ASMD A May 15, 2009 - July 20, 2012 ...
总体而言,Xenpozyme 治疗改善了肺功能并减少了肝脏和脾脏的大小。 鞘磷脂沉积病(acid sphingomyelinase deficiency,ASMD)又称尼曼-匹克病(Niemann-Pick Disease,NPD),是由于缺乏分解复杂脂质(称为鞘磷脂)所需的酶引起的,这种脂质在肝脏、脾脏、肺和大脑中积聚。ASMD 患者腹部增大,可引起疼痛、呕吐、喂养困难和跌倒...
mutations cosegregate with the disease phenotype in families, and neither were found in up to 300 control individuals studied. Further expression analysis ofPitx3in the mouse supports a unique role in early ocular development, with later expression extending to the midbrain, tongue, incisors, sternu...
(formerly known as Niemann–Pick disease type B) in Italy, we conducted a Delphi consensus of experts focused on five main areas: (i) patients and disease characteristics; (ii) unmet needs and quality of life; (iii) diagnostic issues; (iv) treatment-related aspects; and (v) patient ...
Acid sphingomyelinase deficiencyRare diseaseTime trade-offTTOPediatric utilityIntroduction Acid sphingomyelinase deficiency (ASMD) type B is a rare genetic disorder leading to enlargement of the spleen and liver, pulmonary dysfunction, and other symptoms. Cost-utility analyses are often conducted to ...
The incidence of acid sphingomyelinase deficiency (ASMD) in cases of suspected Gaucher disease, genotype-phenotype correlation together with Lyso-SPM biomarkerdoi:10.1016/j.ymgme.2020.12.186Petra OlivaMarkus SchwarzThomas WiesingerJake ScottDavid C. Kasper...
Acid sphingomyelinase deficiency (ASMD; also known as Niemann-Pick Disease [NPD] A and B) is a rare lysosomal storage disease characterized by the pathological accumulation of sphingomyelin within multiple cell types throughout the body. The infantile neurovisceral (ASMD type A, also known as...
The present disclosure provides methods of screening, diagnosing, monitoring and/or treating acid sphingomyelinase (ASM) disorders such as Niemann-Pick disease. In particular, the methods encompass techniques for improved diagnosis and/or treatment of an ASM disorder, for example using enzyme ...
Both mutations cosegregate with the disease phenotype in families, and neither were found in up to 300 control individuals studied. Further expression analysis of Pitx3in the mouse supports a unique role in early ocular development, with later expression extending to the midbrain, tongue, incisors...