Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report

2018 ◽  
Vol 39 (6) ◽  
pp. 1015-1019 ◽  
Author(s):  
Stefano Tozza ◽  
Raffaele Dubbioso ◽  
Rosa Iodice ◽  
Antonietta Topa ◽  
Marcello Esposito ◽  
...  
Keyword(s):  
Case Report ◽  
Cognitive Decline ◽  
Disease Type ◽  
Term Therapy ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Long Term Therapy ◽  
Pick Disease

Hepatosplenomegaly and progressive neurological symptoms - Late manifestation of Niemann-Pick disease type C - a case report -

2001 ◽  
Vol 39 (11) ◽  
pp. 971-974 ◽  
Author(s):  
A R. J Schneider, MD ◽  
F Stichling, MD ◽  
M Hoffmann, MD ◽  
R Scheler, MD ◽  
J C Arnold, MD ◽  
...  
Keyword(s):  
Case Report ◽  
Disease Type ◽  
Neurological Symptoms ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Late Manifestation ◽  
Pick Disease

scholarly journals Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C

2012 ◽  
Vol 36 (1) ◽  
pp. 129-137 ◽  
Author(s):  
Y. H. Chien ◽  
S. F. Peng ◽  
C. C. Yang ◽  
N. C. Lee ◽  
L. K. Tsai ◽  
...  
Keyword(s):  
Disease Type ◽  
Term Efficacy ◽  
Paediatric Patients ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

99. Long-term clinical trial with miglustat in Niemann-Pick disease type C

2009 ◽  
Vol 96 (2) ◽  
pp. S33-S34
Author(s):  
Marc Patterson ◽  
Darlenn Vecchio ◽  
Elizabeth Jacklin ◽  
Ed Wraith
Keyword(s):  
Clinical Trial ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

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

2018 ◽  
Vol 13 (1) ◽  
Author(s):  
Yann Nadjar ◽  
Ana Lucia Hütter-Moncada ◽  
Philippe Latour ◽  
Xavier Ayrignac ◽  
Elsa Kaphan ◽  
...  
Keyword(s):  
Treatment Effect ◽  
Disease Type ◽  
Clinical Phenotypes ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Neuropsychological and electrophysiological long-term follow-up in the adult form of Niemann-Pick disease type C

2019 ◽  
Vol 130 (1) ◽  
pp. e13-e14
Author(s):  
S. Tozza ◽  
R. Dubbioso ◽  
R. Iodice ◽  
A. Topa ◽  
M. Esposito ◽  
...  
Keyword(s):  
Disease Type ◽  
Adult Form ◽  
Niemann Pick Disease ◽  
Long Term Follow Up ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C

2009 ◽  
Vol 25 (3) ◽  
pp. 300-305 ◽  
Author(s):  
Marc C. Patterson ◽  
Darleen Vecchio ◽  
Elizabeth Jacklin ◽  
Larry Abel ◽  
Harbajan Chadha-Boreham ◽  
...  
Keyword(s):  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report

2019 ◽  
Vol 43 (5) ◽  
pp. 621-624
Author(s):  
Eun Jae Ko ◽  
In Young Sung ◽  
Han-Wook Yoo
Keyword(s):  
Cerebral Palsy ◽  
Case Report ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

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

2021 ◽  
Vol 55 (4) ◽  
pp. 238-241
Author(s):  
Rejane Viana dos Santos ◽  
Tamila das Neves Ferreira ◽  
Daniela Oliveira de Almeida ◽  
Lilian Brito da Silva Fatal ◽  
Edilene Maria Queiroz Araujo
Keyword(s):  
Case Report ◽  
Genetic Diseases ◽  
Pharmacological Therapy ◽  
Disease Type ◽  
Omega 3 ◽  
Niemann Pick Disease ◽  
Nutrition Service ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Abstract 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. Case report. A 33-year-old woman diagnosed with NPC using miglustat was instructed to look for a dietary management at our nutrition service. Patient’s symptoms were weight loss and important gastrointestinal alterations. Our nutritional prescription was a high-calorie and high-protein, lactose- and sucrose-free diet, as well as a daily supplementation of L-glutamine, probiotics, omega 3, and coenzyme Q10. After two months, the patient had weight gain and improvement in the intestinal health. Conclusions. We found that nutritional prescription aided in the treatment of NPC and revealed that nutritional care represents an important strategy in the management of rare genetic diseases.

scholarly journals NPC 1 enables cholesterol mobilization during long‐term potentiation that can be restored in Niemann–Pick disease type C by CYP 46A1 activation

EMBO Reports ◽  
2019 ◽  
Vol 20 (11) ◽  
Author(s):  
Daniel N Mitroi ◽  
Guadalupe Pereyra‐Gómez ◽  
Beatriz Soto‐Huelin ◽  
Fernando Senovilla ◽  
Toshihide Kobayashi ◽  
...  
Keyword(s):  
Long Term Potentiation ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Term Potentiation ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease
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