Sage Journals: Discover world-class research

Retricted access

Case report

First published 2015-10

Systemic lupus erythematosus occurring in a patient with Niemann–Pick type B disease

G Murgia, D Firinu, R Meleddu [...]

Lupus

Open access

Case report

First published 2024-7

Bilateral Macular Halo and Full-Thickness Macular Hole Repair in Niemann-Pick Disease Type B

Ye Li, Svetlana Cherepanoff, Adrian T. Fung

Journal of VitreoRetinal Diseases

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Research article

First published 1990-11

. Hyperlipidemia as a Complication of Niemann-Pick Type B Disease

M. Filling-Katz, J.K. Fink, K.L. Oliver [...]

Clinical Pediatrics

Free access

Case report

First published 2014-9

A novel missense SMPD1 gene mutation,T460P,and clinical findings in a patient with Niemann–Pick disease type B presenting to a lipid disorders clinic

Yael Grasko, Amanda J Hooper, John R Burnett [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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Research article

First published 1995-08

Fluorescence-Based Selection of Retrovirally Transduced Cells in the Absence of a Marker Gene: Direct Selection of Transduced Type B Niemann-Pick Disease Cells and Evidence for Bystander Correction

Patricia Levy Yeyati, Vered Agmon, Cristina Fillat [...]

Human Gene Therapy

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Letter

First published 2021-12

Importance of Disease Recognition and Proper Disease Nomenclature for Patients With Acid Sphingomyelinase Deficiency (Historically Known as Niemann-Pick Types A or B) With a Disease-Specific Treatment on the Horizon

Manuel Ribes, Maria-Veronica Muñoz-Rojas

Clinical Pediatrics

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Research article

First published 1992-12

Toward Gene Therapy for Niemann-Pick Disease (NPD): Separation of Retrovirally Corrected and Noncorrected NPD Fibroblasts Using a Novel Fluorescent Sphingomyelin

Tama Dinur, Edward H. Schuchman, Eitan Fibach [...]

Human Gene Therapy

Open access

Case report

First published 2022

Lamellar Bodies in Podocytes Associated With Compound Heterozygous Mutations for Niemann Pick Type C1 Mimicking Fabry Disease,a Case Report

Pairach Pintavorn, Stephanie Munie, Sweta Munagapati

Canadian Journal of Kidney Health and Disease

Retricted access

Research article

First published 1997-6

Niemann–Pick Disease: Mutation Update,Genotype/Phenotype Correlations,and Prospects for Genetic Testing

Edward H. Schuchman, Silvia R.P. Miranda

Genetic Testing and Molecular Biomarkers

Open access

Review article

First published 2017-5-25

Lysosomal storage diseases

Carlos R. Ferreira, William A. Gahl

Translational Science of Rare Diseases

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