Results 21 to 30 of about 3,855 (201)

Nutrition management of Niemann Pick disease type C: A case report

Endocrine Regulations, 2021
Objectives. We aim to report the clinical repercussions of a nutritional approach in a patient diagnosed with Niemann Pick disease type C (NPC) using miglustat as pharmacological therapy.
Viana dos Santos Rejane, das Neves Ferreira Tamila, Oliveira de Almeida Daniela, Brito da Silva Fatal Lilian, Queiroz Araujo Edilene Maria   +4 more
doaj   +1 more source

Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports

Journal of Medical Case Reports, 2018
Background Intravenous enzyme replacement therapy is a first-line therapy for Gaucher disease type 1, and substrate reduction therapy represents an oral treatment alternative.
Dominick Amato, Mary Anne Patterson
doaj   +1 more source

Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis. [PDF]

J Inherit Metab Dis
ABSTRACT Nizubaglustat is a novel selective inhibitor of glucosylceramide synthase (GCS) and the non‐lysosomal glucocerebrosidase (NLGase, GbA2) with brain penetrant properties. It is currently in clinical development as an oral treatment for rare lysosomal storage diseases with neurological involvement. One such disease group called GM2 gangliosidosis,
Landskroner K, Singh K, Mitchell M, Walia JS.   +3 more
europepmc   +2 more sources

Miglustat in Niemann-Pick disease type C patients: a review

Orphanet Journal of Rare Diseases, 2018
Objective Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations.
Mercè Pineda, Mark Walterfang, Marc C. Patterson   +2 more
doaj   +1 more source

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment [PDF]

, 2017
International audienceBackground: Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs.
Damien Galanaud, Fanny Mochel, Frédéric Sedel, Isaac Adanyeguh, Marion Masingue, Yann Nadjar   +5 more
core   +2 more sources

Psychosis in an adolescent girl: a common manifestation in Niemann-Pick Type C disease [PDF]

, 2014
Niemann-Pick disease type C (NP-C) is a rare autosomal-recessively inherited lysosomal storage disorder. It is caused by mutations in the NPC1 (95%) or NPC2 gene.
Annik Lampo, Edward Campforts, Linda De Meirleir, Sara Wouters   +3 more
core   +1 more source

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

Orphanet Journal of Rare Diseases, 2018
Background Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes.
Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T. Vanier, Bénédicte Héron   +19 more
doaj   +1 more source

Successful implementation of classical ketogenic dietary therapy in a patient with Niemann-Pick disease type C

Molecular Genetics and Metabolism Reports, 2021
Background: Niemann-Pick disease type C (NP-C) is a neurodegenerative disease for which only palliative treatment exists, and only miglustat is effective in stabilizing neurological manifestations of NP-C.
A. Höller, U. Albrecht, S. Baumgartner Sigl, T. Zöggeler, G. Ramoser, B. Bernar, D. Karall, S. Scholl-Bürgi   +7 more
doaj   +1 more source

A hopeful therapy for Niemann-Pick C diseases [PDF]

, 2017
Not abstract ...
Erickson, Robert P., Fiorenza, Maria Teresa   +1 more
core   +1 more source

GBA2-encoded β-glucosidase activity is involved in the inflammatory response to Pseudomonas aeruginosa.

PLoS ONE, 2014
Current anti-inflammatory strategies for the treatment of pulmonary disease in cystic fibrosis (CF) are limited; thus, there is continued interest in identifying additional molecular targets for therapeutic intervention.
Nicoletta Loberto, Maela Tebon, Ilaria Lampronti, Nicola Marchetti, Massimo Aureli, Rosaria Bassi, Maria Grazia Giri, Valentino Bezzerri, Valentina Lovato, Cinzia Cantù, Silvia Munari, Seng H Cheng, Alberto Cavazzini, Roberto Gambari, Sandro Sonnino, Giulio Cabrini, Maria Cristina Dechecchi   +16 more
doaj   +1 more source