Associated Papers
SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.
Wang R et al.
Hereditas, 2023
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Multimodal imaging including optical coherence tomography angiography in patients with type B Niemann-Pick disease.
Bolukbasi S et al.
International Ophthalmology, 2019
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up.
Lipiński P et al.
Orphanet Journal of Rare Diseases, 2019
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga DR et al.
Genetics and Molecular Biology, 2019
Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.
Zahedi Abghari F et al.
Medical Journal of the Islamic Republic of Iran, 2019
Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report.
Nasereddin A et al.
Journal of Medical Case Reports, 2018
[Analysis of SMPD1 gene mutations in Chinese patients with Parkinson's disease].
Song N et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Ranganath P et al.
American Journal of Medical Genetics. Part A, 2016
Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson's Disease.
Deng S et al.
Molecular Neurobiology, 2016
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
Zampieri S et al.
Human Mutation, 2016
Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease.
Rhein C et al.
International Journal of Molecular Sciences, 2015
Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD).
Manshadi MD et al.
International Journal of Molecular Sciences, 2015
Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthood.
Lidove O et al.
Jimd Reports, 2015
Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.
Clark LN et al.
Plos One, 2015
Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.
Chin EL et al.
Bmc Genetics, 2013
A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.
Hua R et al.
Chinese Medical Journal, 2012
Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population.
Cerón-Rodríguez M et al.
Annals of Hepatology, 0