Results 71 to 80 of about 3,309 (181)

Myelin Deficits and Intravenous Gene Therapy in Feline Sandhoff Disease [PDF]

, 2021
Sandhoff Disease (SD) is a neurodegenerative lysosomal storage disease (LSD) that results in the death of children before 4 years of age. Because there are no FDA-approved therapies available, current treatment strategies are limited to palliation. SD is
Maguire, Anne
core  

Determinación de la actividad enzimática de la hexosaminidasa en fluidos biológicos

Biomédica: revista del Instituto Nacional de Salud, 1996
Este estudio describe un método electroforético que emplea el sustrato fluorogénico 4- metilumbelliferil 2-acetamida 2-deoxi-O-D-glucopiranosido, para la determinación enzimática de la hexosaminidasa (HEX) en linfocitos de sangre periférica, líquido ...
Marlén Rodríguez, Angela Sánchez, Mónica A. Gutiérrez, Antonio J. Bermúdez   +3 more
doaj   +1 more source

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. [PDF]

PLoS ONE, 2018
Hypomyelinating disorders are a group of clinically and genetically heterogeneous diseases characterized by neurological deterioration with hypomyelination visible on brain MRI scans.
Haoran Ji, Dongxiao Li, Ye Wu, Quanli Zhang, Qiang Gu, Han Xie, Taoyun Ji, Huifang Wang, Lu Zhao, Haijuan Zhao, Yanling Yang, Hongchun Feng, Hui Xiong, Jinhua Ji, Zhixian Yang, Liping Kou, Ming Li, Xinhua Bao, Xingzhi Chang, Yuehua Zhang, Li Li, Huijuan Li, Zhengping Niu, Xiru Wu, Jiangxi Xiao, Yuwu Jiang, Jingmin Wang   +26 more
doaj   +1 more source

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Raphael Schiffmann
wiley   +1 more source

Transgenic animals - review paper [PDF]

, 2006
Developments in the biological sciences in the last years have changed mankind's ability to manipulate the genetics, cell biology and physiology of biological organisms. These techniques, collectively termed biotechnology, create the opportunity for
Blundell, Renald
core  

GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series) [PDF]

, 2014
How to Cite This Article: Karimzadeh P, Jafari N, Nejad Biglari H, Jabbeh Dari S, Ahmad Abadi F, Alaee MR, Nemati H, Saket S,Tonekaboni SH, Taghdiri MM, Ghofrani M. GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (
AHMAD ABADI, Farzad, ALAEE, Mohammad-Reza, GHOFRANI, Mohammad, JABBEH DARI, Sayena, JAFARI, Narjes, KARIMZADEH, Parvaneh, NEJAD BIGLARI, Habibeh, NEMATI, Hamid, SAKET, Sasan, TAGHDIRI, Mohammad-Mahdi, TONEKABONI, Seyed Hassan   +10 more
core   +2 more sources

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

Lysosomal storage diseases [PDF]

, 2017
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include
Ferreira, Carlos, Gahl, William
core   +2 more sources

Structural basis of the GM2 gangliosidosis B variant [PDF]

Journal of Human Genetics, 2003
To study the structural basis of the GM2 gangliosidosis B variant, we constructed the three-dimensional structures of the human beta-hexosaminidase alpha-subunit and the heterodimer of the alpha- and beta-subunits, Hex A, by homology modeling. The alpha-subunit is composed of two domains, domains I and II.
Fumiko, Matsuzawa, Sei-ichi, Aikawa, Hitoshi, Sakuraba, Hoang Thi Ngoc, Lan, Akemi, Tanaka, Kousaku, Ohno, Yuko, Sugimoto, Haruaki, Ninomiya, Hirofumi, Doi   +8 more
openaire   +2 more sources

Nanoplastics: Immune Impact, Detection, and Internalization after Human Blood Exposure by Single‐Cell Mass Cytometry

Advanced Materials, Volume 37, Issue 12, March 26, 2025.
The study investigates the effects of nanoplastics on human immune cells using palladium‐doped polystyrene nanoplastics and mass cytometry. It reveals that nanoplastics accumulate in various immune cell subpopulations, reducing cell viability and impairing function. In vivo experiments in mice confirm their accumulation in several immune cells.
Laura Fusco, Arianna Gazzi, Linda Giro, Roman B. Schefer, Sènan Mickael D'Almeida, Roberta Cagliani, Martina Zoccheddu, Recep Uyar, Ömur Besbinar, Doğantan Çelik, Acelya Yilmazer, Denise M. Mitrano, Marco Orecchioni, Lucia Gemma Delogu   +13 more
wiley   +1 more source