Associated Papers
Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency.
Deodato F et al.
Frontiers in Pediatrics, 2024
Genetic Evidence for Endolysosomal Dysfunction in Parkinson's Disease: A Critical Overview.
Yahya V et al.
International Journal of Molecular Sciences, 2023
Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan.
Pan YW et al.
Molecular Genetics and Metabolism Reports, 2023
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Alcalay RN et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder.
Panigrahi I et al.
Case Reports in Genetics, 2019
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH2T2
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
Acuña M et al.
European Journal of Human Genetics : Ejhg, 2016
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).
McGovern MM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Infant with type A Niemann Pick disease and undetectable Niemann Pick cells in bone marrow.
Mukherjee SB et al.
Indian Pediatrics, 2012
Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.
Ricci V et al.
Human Mutation, 2004
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