Results 61 to 70 of about 2,912 (167)
Sandhoff disease (GM2 gangliosidoses) in a premature patient with bronchopulmonary dysplasia
Neurosciences, 2002 We report a female premature infant with bronchopulmonary dysplasia and Sandhoff disease. The clue for diagnosis was the fundoscopy examination. We discuss this rare disease with unusual presentation of intrauterine growth retardation, premature delivery, and bronchopulmonary dysplasia.
Atiqa, Abdul-Wahab +2 more
openaire +3 more sources
Journal of Clinical Laboratory Analysis, Volume 39, Issue 1, January 2025.Sphingolipidoses is a group of rare inherited lysosomal diseases that require an early and accurate diagnosis for effective treatment and patient management. A high‐resolution mass spectrometry method coupled with liquid chromatography has beendeveloped to analyze lysosphingolipids in plasma and dried blood spots.
Franklin Ducatez +17 more
wiley +1 more source
“IDS crossing of the Blood-Brain Barrier corrects CNS defects in MPSII mice” [PDF]
, 2010 IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice Mucopolysaccharidosis type II (MPSII), or Hunter syndrome, arises from a deficiency in iduronate 2-sulfatase (IDS), and it is characterized by progressive somatic and ...
Polito, Vinicia Assunta
core +1 more source
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract Herein, we studied the expression of endocannabinoid receptor 2 (CB2R), a known inflammation mediator, in several lysosomal storage disorder (LSD) animal models and evaluated it as a potential biomarker and therapeutic target for these diseases.
Calogera M. Simonaro +2 more
wiley +1 more source
Quantification of mRNAs encoding proteins of the glycosphingolipid catabolism in mouse models of GM2 gangliosidoses and sphingolipid activator protein precursor (prosaposin) deficiency [PDF]
, 2000 We have investigated the mRNA amounts of six lysosomal proteins (β-hexosaminidase α- and β-subunit, sphingolipid activator protein precursor, GM2 activator protein, lysosomal sialidase, β-glucocerebrosidase) involved in the degradation of ...
Sandhoff, Konrad +11 more
core +1 more source
Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 327-339, March 2024.Abstract Cerebellar atrophy is a characteristic sign of late‐onset Tay‐Sachs disease (LOTS). Other structural neuroimaging abnormalities are inconsistently reported. Our study aimed to perform a detailed whole‐brain analysis and quantitatively characterize morphometric changes in LOTS patients.
Jitka Májovská +15 more
wiley +1 more source
Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review
Annals of Clinical and Translational Neurology, Volume 11, Issue 1, Page 207-224, January 2024.Abstract Objective Late‐onset GM2 gangliosidosis (LOGG) subtypes late‐onset Tay‐Sachs (LOTS) and Sandhoff disease (LOSD) are ultra‐rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous studies considered LOTS and LOSD clinically indistinguishable; recent studies have challenged this.
Neha P. Godbole +7 more
wiley +1 more source
, 2014 The infantile GM2 gangliosidoses are severe neurodegenerative disorders, caused by a defect in the β-hexosaminidase system. They are characterized by lysosomal accumulation of the substrate, GM2 ganglioside, which results in severe neuronal damage and ...
Altaleb, Naderah
core
Correction of AB Variant GM2 Gangliosidoses Using AAV9 Viral Vector Gene Therapy in a Mouse Model [PDF]
, 2019 GM2 Gangliosidoses are a group of neurodegenerative diseases affecting the brain. In humans, these diseases are characterized by rapid neurological deterioration and death before 4-years of age.
Vyas, Meera
core