Results 71 to 80 of about 9,391,147 (295)

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Gaucher Disease pada Bayi: Kasus Jarang

Majalah Kedokteran Andalas, 2023
Pendahuluan: Gaucher disease (GD) adalah penyakit genetik yang ditandai dengan akumulasi substansi lemak di dalam sel atau organ-organ tertentu. Penyakit ini disebabkan oleh mutasi gen glucosidase beta acid (GBA) yang mengakibatkan defisiensi enzim ...
Rikarni Rikarni, Harika Putra
doaj   +1 more source

Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles. [PDF]

, 2019
Targeted delivery of lysosomal enzymes to the endocytic compartment of human cells represents a transformative technology for treating a large family of lysosomal storage diseases (LSDs).
Brown, Annie, Do, Mai Anh, Levy, Daniel, Lu, Biao, Marriott, Gerard   +4 more
core   +1 more source

Conformationally-Locked C-Glycosides: Tuning Aglycone Interactions for Optimal Cheperone Behaviour in Gaucher Fibroblasts [PDF]

, 2016
A series of conformationally locked C-glycosides based on the 3-aminopyrano[3,2-b]pyrrol-2(1H)-one (APP) scaffold has been synthesized. The key step involved a totally stereocontrolled C-Michael addition of a serine-equivalent C-nucleophile to tri-O ...
Avenoza, A., Busto, J.H., Corzana, F., García Fernández, José Manuel, Higaki, Katsumi, Namba, E., Navo, C.D., Ortiz Mellet, Carmen, Peregrina, J.M., Sánchez Fernández, Elena Matilde   +9 more
core   +1 more source

Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Deep brain stimulation (DBS) is effective for Parkinson's disease (PD); however, its efficacy varies with genetic background, such as the GBA1 variant—the causative gene of Gaucher disease—associated with increased PD risk and cognitive decline after subthalamic nucleus (STN)‐DBS.
Hikaru Kamo, Genko Oyama, Mai Shimizu, Haruka Takeshige‐Amano, Takashi Ogawa, Wataru Sako, Noriko Nishikawa, Taku Hatano, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Masanobu Ito, Hirokazu Iwamuro, Atsushi Umemura, Nobutaka Hattori   +14 more
wiley   +1 more source

Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement

Insights into Imaging, 2019
Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme β-glucocerebrosidase causing the accumulation of abnormal macrophages (“Gaucher cells”) within multiple organs, most conspicuously affecting the liver, spleen,
A. Degnan, Victor M. Ho-Fung, R. Ahrens-Nicklas, Christian A. Barrera, S. Serai, Dah‐Jyuu Wang, C. Ficicioglu   +6 more
semanticscholar   +1 more source

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility

Movement Disorders, EarlyView.
Abstract Background GBA1 variants cause Gaucher's disease (GD) in biallelic forms and increase Parkinson's disease (PD) risk in heterozygous carriers. Carriers of mild or severe variants (causing GD type 1 or types 2–3) can enroll in clinical trials, whereas those with GBA1 variants classified as unknown are typically excluded.
Sitki Cem Parlar, Yoomin Lee, Ziv Gan‐Or   +2 more
wiley   +1 more source

Demographic, Clinical and Genetic Characteristics of Child Gaucher Disease Patients in Russia: Pediatric Register Data

Педиатрическая фармакология, 2016
Background: Registers are an effective tool for tracing the dynamics of patients with rare pathologies.Objective: Our aim was to examine the demographic, clinical and genetic features of child Gaucher disease patients in Russia.Methods: We held a ...
G. B. Movsisyan, O. S. Gundobina, L. S. Namazova-Baranova, K. V. Savostyanov, A. N. Pushkov, V. V. Chernikov, N. N. Mazanova, A. M. Romanyuk, V. I. Smirnov   +8 more
doaj   +1 more source

Efficacy of pentosan polysulfate in in vitro models of lysosomal storage disorders: Fabry and Gaucher Disease

PLoS ONE, 2019
Gaucher and Fabry diseases are the most prevalent sphingolipidoses. Chronic inflammation is activated in those disorders, which could play a role in pathogenesis.
A. Crivaro, J. Mucci, C. Bondar, M. Ormazabal, R. Ceci, C. Simonaro, P. Rozenfeld   +6 more
semanticscholar   +1 more source

Gaucher Disease: an underdiagnosed disorder [PDF]

, 2011
OBJECTIVE: Gaucher disease is an inborn error of metabolism, clinically heterogeneous, whose prognosis may vary according to the presentation subtype.
Aoqui, William Luiz, Araújo, Maria Bernadete J., Ferreira, Camila Simões, Silva, Luis Roberto Da, Tannús, Roberta Kazan   +4 more
core   +4 more sources