Niemann-Pick type A disease with new mutation: a case report

被引:0
作者
Fatemeh Aghamahdi
Matineh Nirouei
Shahram Savad
机构
[1] Alborz University of Medical Sciences,Pediatric Endocrinologist, Department of Pediatrics
[2] Alborz University of Medical Sciences,Medical Genetics
[3] Tehran University of Medical Sciences,undefined
来源
Journal of Medical Case Reports | / 16卷
关键词
Niemann-Pick type A; Acid sphingomyelinase; Hypotonia; Neurodegenerative disorder; Case report;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 58 条
[1]  
McGovern M(2006)Natural history of type A Niemann-Pick disease: possible endpoints for therapeutic trials Neurology 66 228-232
[2]  
Aron A(2017)Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD) Orphanet J Rare Dis 12 1-13
[3]  
Brodie S(2019)Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population Ann Hepatol 18 613-619
[4]  
Desnick R(2008)A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B Pediatrics 122 398-407
[5]  
Wasserstein M(2018)Mucolipidosis type III gamma: three novel mutation and genotype-phenotype study in eleven patients Gene 642 1-7
[6]  
McGovern MM(2016)Short communication impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings Genet Mol Res 15 13-23
[7]  
Avetisyan R(2016)Gaucher disease: clinical, biological and therapeutic aspects Pathobiology 83 27-33
[8]  
Sanson B-J(2017)Types A and B Niemann-Pick disease Mol Genet Metab 120 126-1550
[9]  
Lidove O(2019)Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene Med J Islam Repub Iran 33 1543-838
[10]  
Cerón-Rodríguez M(2021)One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency Genet Med 23 829-undefined