Niemann Peak Disease Type A in Necropsy of the Liver of a Four-Month-Old Female with Fe-ver and Pancytopenia

by Amer Yazdanparast, Gholamreza Fathpour, Parvin Jalali
Published 2021-05-01

Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann–Pick diseases

by Mark L. Schultz, Maria V. Fawaz, Ruth D. Azaria, Todd C. Hollon, Elaine A. Liu, Thaddeus J. Kunkel, Troy A. Halseth, Kelsey L. Krus, Ran Ming, Emily E. Morin, Hayley S. McLoughlin, David D. Bushart, Henry L. Paulson, Vikram G. Shakkottai, Daniel A. Orringer, Anna S. Schwendeman, Andrew P. Lieberman
Published 2019-11-01

Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments

by William S. Garver, Randall A. Heidenreich, Robert P. Erickson, Mitchell A. Thomas, Jean M. Wilson
Published 2000-05-01

Anesthetic consideration of Niemann-Pick Disease type C

by Masoud Nashibi, Ardeshir Tajbakhsh, Farhad Safari, Kamran Mottaghi
Published 2016-03-01

Ezetimibe interferes with cholesterol trafficking from the plasma membrane to the endoplasmic reticulum in CaCo-2 cells

by F. Jeffrey Field, Kim Watt, Satya N. Mathur
Published 2007-08-01

Inhibition of fatty acid amide hydrolase prevents pathology in neurovisceral acid sphingomyelinase deficiency by rescuing defective endocannabinoid signaling

by Adrián Bartoll, Ana Toledano‐Zaragoza, Josefina Casas, Manuel Guzmán, Edward H Schuchman, María Dolores Ledesma
Published 2020-11-01

Bone marrow involvement of a patient with Niemann-Pick disease concomitant with Kartagener’s syndrome: Report of a rare case

by Muzaffer Keklik, serdar sivgin, suleyman baldane, afra yildirim, olgun kontas, fatih kardas, cigdem pala, ali unal
Published 2014-08-01

Adult Niemann-Pick disease type B with myositis ossificans: a case report

by Russka Shumnalieva, Simeon Monov, Viara Shoumnalieva-Ivanova, Rasho Rashkov
Published 2016-07-01

Priapism associated with Niemann-Pick disease in a 15-year-old boy

by M V Krishna Shetty, M Udaya Kumar, T K Sen
Published 2011-01-01

Compound heterozygous Niemann-Pick Type C disease in the neonatal period

by Deniz Anuk-ince, Ayşe Ecevit, Zerrin Yilmaz, Özden Turan
Published 2021-05-01

Pharmacological reversion of sphingomyelin‐induced dendritic spine anomalies in a Niemann Pick disease type A mouse model

by Ana I Arroyo, Paola G Camoletto, Laura Morando, Marco Sassoe‐Pognetto, Maurizio Giustetto, Paul P Van Veldhoven, Edward H Schuchman, Maria D Ledesma
Published 2014-03-01

Dental Treatment of Two Children with Niemann Pick Disease Type B Under General Anesthesia: Case Reports

by Mustafa Sarp KAYA, Meltem BAKKAL, Serdar YEŞİLTAŞ
Published 2019-01-01

Altered vitamin E status in Niemann-Pick type C disease

by L. Ulatowski, R. Parker, C. Davidson, N. Yanjanin, T.J. Kelley, D. Corey, J. Atkinson, F. Porter, H. Arai, S.U. Walkley, D. Manor
Published 2011-07-01

Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish[S]

by Tyler Schwend, Evyn J. Loucks, Diana Snyder, Sara C. Ahlgren
Published 2011-07-01

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

by Margaret M. McGovern, Melissa P. Wasserstein, Bruno Bembi, Roberto Giugliani, K. Eugen Mengel, Marie T. Vanier, Qi Zhang, M. Judith Peterschmitt
Published 2021-05-01

Lysosomal membrane glycoproteins bind cholesterol and contribute to lysosomal cholesterol export

by Jian Li, Suzanne R Pfeffer
Published 2016-09-01

Uma Forma Rara de Hepatoesplenomegália: Doença de Niemann-Pick Tipo B

by Cristina Trindade, Ana Gaspar, Teresa Tasso, Filomena Eusébio, Aguinaldo Cabral
Published 2014-09-01

ORAL ASPECTS IN NIEMANN-PICK SYNDROME: CLINICAL CASE PRESENTATION

by Andrei Kozma, Andreea Dona Iordan-Dumitru, Horia Lăzărescu, Claudiu Topoliceanu, Doriana Agop Forna, Agnes K. Lackner, Norina Forna
Published 2019-06-01

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

by Héron Bénédicte, Valayannopoulos Vassili, Baruteau Julien, Chabrol Brigitte, Ogier Hélène, Latour Philippe, Dobbelaere Dries, Eyer Didier, Labarthe François, Maurey Hélène, Cuisset Jean-Marie, de Villemeur Thierry, Sedel Frédéric, Vanier Marie T
Published 2012-06-01

A rare form histiocytic disorders of the lung: adult niemann pick disease type b

by Funda Demirag, Gungor Dulkar, Erkmen Gulhan, Fatma Ikbal Saka
Published 2019-06-01