Results 71 to 80 of about 2,627 (188)

Niemann-Pick disease type C: a case series of Brazilian patients

Arquivos de Neuro-Psiquiatria, 2014
The aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented.
Paulo José Lorenzoni, Elaine Cardoso, Ana C. S. Crippa, Charles Marques Lourenço, Fernanda Timm Seabra Souza, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Salmo Raskin, Isac Bruck, Cláudia S. K. Kay, Rosana H. Scola, Lineu C.Werneck, Hélio A. G. Teive   +12 more
doaj   +1 more source

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system

Brain Pathology, Volume 36, Issue 1, January 2026.
Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li, Haoying He, Ejuan Zhang, Fengjiao Hu, Zhuo Wang, Jian Xu, Mengliu Zeng, Biwen Peng   +7 more
wiley   +1 more source

Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat

Neurology Research International, 2010
In Gaucher Disease (GD) the enzyme (imiglucerase) replacement therapy (ERT) is not able to stop the progression of the neurological involvement, while the substrate reduction therapy (SRT), performed by N-Butyldeoxynojirimycin (miglustat), is an ...
Agostino Accardo, Stefano Pensiero, Giovanni Ciana, Fulvio Parentin, Bruno Bembi   +4 more
doaj   +1 more source

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello, Mara Cananzi, Annachiara Cavaliere, Christian Loro, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Alberto B. Burlina   +7 more
wiley   +1 more source

Mechanism of miglustat-induced infertility in male mice

, 2010
Miglustat IS an inhibitor of multiple enzymes involved in glycosphingolipid (GSL) metabolism, and is used as substrate reduction therapy to treat type 1 Gaucher disease.
Chuang, Chia-Chen Celeste
core  

Short-term effect of miglustat in every day clinical use in treatment-naive or previously treated patients with type 1 Gaucher's disease

Haematologica, 2006
In a prospective, open-label study, 25 patients with mild-to-moderate type 1 Gaucher's disease (GD1) were treated with miglustat (Zavesca), an oral glucosylceramide synthase inhibitor, over 12 months.
P Giraldo, P Latre, P Alfonso, A Acedo, D Alonso, A Barez, A Corrales, R Franco, V Roldan, S Serrano, M Pocovi   +10 more
doaj  

Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician

International Journal of Pediatrics, 2015
Niemann-Pick disease (NP-C) is a lysosomal storage disease in which impaired intracellular lipid transport leads to accumulation of cholesterol and glycosphingolipids in various neurovisceral tissues.
Hanna Alobaidy
doaj   +1 more source

Estado nutricional de los pacientes con diagnóstico de Niemann-Pick tipo C en Colombia

Revista de Nutrición Clínica y Metabolismo, 2019
La enfermedad de Niemann Pick tipo C, es una enfermedad neurovisceral de depósito lisosomal progresiva y debilitante cuyos síntomas tienen un impacto negativo en el estado nutricional de las personas que lo padecen. Sumado a lo anterior, se han descrito
Liliana Ladino Meléndez, Ana Lorena Montealegre Páez, Erika Ochoa   +2 more
doaj   +1 more source

NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls

Scientific Reports, 2017
Niemann-Pick type C1 (NPC1) disease is a rare autosomal recessive, neurodegenerative lysosomal storage disorder, which presents with a range of clinical phenotypes and hence diagnosis remains a challenge.
Fay Probert, Victor Ruiz-Rodado, Danielle te Vruchte, Elena-Raluca Nicoli, Tim D. W. Claridge, Christopher A. Wassif, Nicole Farhat, Forbes D. Porter, Frances M. Platt, Martin Grootveld   +9 more
doaj   +1 more source

Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study

, 2013
We evaluated clinical and safety outcomes in adult patients with type 1 Gaucher disease receiving miglustat in clinical practice settings. An observational, retrospective cohort study was conducted in centers across the EU and the USA. Medical chart data
Muller, Audrey, Kuter, David J., Hughes, Derralynn, Mehta, Atul, Giraldo, Pilar, Schaaf, Berthold, Brand, Monika, Hollak, Carla E. M., Belmatoug, Nadia, Giorgino, Ruben, Zimran, Ari   +10 more
core   +1 more source