Results 81 to 90 of about 3,309 (191)

An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis

Journal of Pediatric Research, 2018
Aim:The purpose of our study is to submit the demographic, phenotypic and age at diagnosis characteristics of children with GM2 gangliosidosis.Materials and Methods: Patients with GM2 gangliosidosis who were referred to Ege University Faculty of Medicine,
Esra Er, Ebru Canda, Havva Yazıcı, Cenk Eraslan, Eser Sözmen, Sema Kalkan Uçar, Mahmut Çoker   +6 more
doaj   +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

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

The juvenile gangliosidoses: A timeline of clinical change

Molecular Genetics and Metabolism Reports, 2020
Background: The gangliosidoses are rare inherited diseases that result in pathologic accumulation of gangliosides in the central nervous system and other tissues, leading to severe and progressive neurological impairment and early death in the childhood ...
Kelly E. King, Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes-Utz   +3 more
doaj   +1 more source

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

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  

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

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease [PDF]

, 2015
Background: Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in
Abbot, Alhamdan, Alswaidi, Alwan, American College of Obstetricians and Gynecologists, Angastiniotis, Angastiniotis, Angastiniotis, Anido, Bach, Barbarin, Bekker, Bekker, Bell, Bonham, Borry, Boulton, Bregnballe, Callanan, Cao, Castellani, Castellani, Cheuvront, Childs, Childs, Christie, Clayton, Czeizel, Davies, Donner, Dormandy, Dyson, Fanos, Fisher, Fowzan, Gharaibeh, Glasscoe, Hegwer, Henneman, Henneman, Henneman, Heyes, Higgins, Honnor, Jones, Kaback, Kenen, Lakeman, Lapham, Lau, Lena-Russo, Lew, Lewis, Locock, Loukopoulos, Massie, Mennie, Mitchell, Modell, Modell, Modell, Modell, Palomaki, Payne, Peters, Petersen, Poppelaars, Qureshi, Ratip, Rose P. Humm, Rowley, Rowley, Samavat, Shapira, Smith, Tambor, Teeuw, Telfer, Ukoumunne, Watson, Watson, Watson, Weatherall, Whitten, Wilkie, Wille, Wilson, Yusuf, Zeesman, Zeuner   +89 more
core   +1 more source

A propósito de un caso de gangliosidosis GM-2 tipo II: enfermedad de Sandhoff

Revista Médica Electrónica, 2015
Las gangliosidosis son un conjunto de enfermedades hereditarias de almacenamiento lisosómico, debidas a un acúmulo de gangliósidos, sobre todo en las neuronas.
Irelis González López, Enrique Marcos Sierra Benítez, Mairiannys Quianella León Pérez, Mayra Luz Leiva González, Samia Hernández Dreke, Yadiel González Fernández   +5 more
doaj  

An Inducible Mouse Model of Late Onset Tay–Sachs Disease

Neurobiology of Disease, 2002
Mouse models of the GM2 gangliosidoses, Tay–Sachs and Sandhoff disease, are null for the hexosaminidase α and β subunits respectively. The Sandhoff (Hexb−/−) mouse has severe neurological disease and mimics the human infantile onset variant. However, the
Mylvaganam Jeyakumar, David Smith, Elena Eliott-Smith, Mario Cortina-Borja, Gabriele Reinkensmeier, Terry D. Butters, Thorsten Lemm, Konrad Sandhoff, V.Hugh Perry, Raymond A. Dwek, Frances M. Platt   +10 more
doaj   +1 more source