A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

Changes in PCSK 9 and apolipoprotein B100 in Niemann–Pick disease after enzyme replacement therapy with olipudase alfa

(2021) Bethanie Garside et al.   Orphanet Journal of Rare Diseases

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

(2021) George A. Diaz et al.   GENETICS IN MEDICINE

Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation

(2021) Margaret M. McGovern et al.   Orphanet Journal of Rare Diseases

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers

(2020) Eline C.B. Eskes et al.   MOLECULAR GENETICS AND METABOLISM

Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment

(2020) Beth L. Thurberg et al.   MOLECULAR GENETICS AND METABOLISM

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy

(2020) Simon A. Jones et al.   MOLECULAR GENETICS AND METABOLISM

Autopsy pathology of infantile neurovisceral ASMD (Niemann-Pick Disease type A): Clinicopathologic correlations of a case report

(2020) Beth L. Thurberg   Molecular Genetics and Metabolism Reports

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months

(2018) Melissa P. Wasserstein et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

(2018) Melissa Wasserstein et al.   MOLECULAR GENETICS AND METABOLISM

Types A and B Niemann-Pick disease

(2017) Edward H. Schuchman et al.   MOLECULAR GENETICS AND METABOLISM

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)

(2017) Margaret M. McGovern et al.   Orphanet Journal of Rare Diseases

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency

(2016) Beth L. Thurberg et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Pulmonary Involvement in Niemann–Pick Disease: A State-of-the-Art Review

(2016) Felipe Mussi von Ranke et al.   LUNG

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases

(2016) David Cassiman et al.   MOLECULAR GENETICS AND METABOLISM

Hypersplenism: History and current status

(2016) Yunfu Lv et al.   Experimental and Therapeutic Medicine

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)

(2015) Margaret M. McGovern et al.   GENETICS IN MEDICINE

A pooled analysis of overall survival in COMFORT-I and COMFORT-II, 2 randomized phase III trials of ruxolitinib for the treatment of myelofibrosis

(2015) A. M. Vannucchi et al.   HAEMATOLOGICA

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

(2015) Melissa P. Wasserstein et al.   MOLECULAR GENETICS AND METABOLISM

A pooled analysis of overall survival in COMFORT-I and COMFORT-II, 2 randomized phase III trials of ruxolitinib for the treatment of myelofibrosis

(2015) A. M. Vannucchi et al.   HAEMATOLOGICA

Morbidity and mortality in type B Niemann–Pick disease

(2013) Margaret M. McGovern et al.   GENETICS IN MEDICINE

Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)

(2012) Beth L. Thurberg et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

The Myeloproliferative Neoplasm Symptom Assessment Form (MPN-SAF): International Prospective Validation and Reliability Trial in 402 patients

(2011) R. Scherber et al.   BLOOD

A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B

(2008) M. M. McGovern et al.   PEDIATRICS