Results 81 to 90 of about 15,504 (206)

Lysosomal storage diseases in Portugal: 10 years of experience in molecular studies at National Health Institute (2006-2016) [PDF]

, 2016
As Doenças Lisososomais de Sobrecarga (DLS) são um grupo de mais de 50 doenças hereditárias do metabolismo, sendo a maioria causada por defeitos em enzimas lisossomais específicas.
Alves, Sandra, Amaral, Olga, Coutinho, Maria Francisca, Duarte, Ana Joana, Matos, Liliana, Santos, Juliana Inês   +5 more
core  

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

Infantile Gangliosidosis

Pediatric Neurology Briefs, 1988
Three sisters with infantile-onset 3 GM1 gangliosidosis are reported from the University of Siens, Italy, and the University of Louvain, Brussels, Belgium.
J Gordon Millichap
doaj   +1 more source

GM1-generalized gangliosidosis variant with cardiomegaly [PDF]

Postgraduate Medical Journal, 1976
SummaryA female infant with generalized GM1-gangliosidosis differing in several aspects from previously reported cases is described. Clinically she is the first case to have cardiomegaly, unilateral congenitial dislocation of the hip and normal facial appearance.
P F, Benson, A, Barbarik, S P, Brown, T P, Mann   +3 more
openaire   +2 more sources

Lipidomic Evaluation of Feline Neurologic Disease after AAV Gene Therapy

Molecular Therapy: Methods & Clinical Development, 2017
GM1 gangliosidosis is a fatal lysosomal disorder, for which there is no effective treatment. Adeno-associated virus (AAV) gene therapy in GM1 cats has resulted in a greater than 6-fold increase in lifespan, with many cats remaining alive at >5.7 years of
Heather L. Gray-Edwards, Xuntian Jiang, Ashley N. Randle, Amanda R. Taylor, Taylor L. Voss, Aime K. Johnson, Victoria J. McCurdy, Miguel Sena-Esteves, Daniel S. Ory, Douglas R. Martin   +9 more
doaj   +1 more source

Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1. [PDF]

, 2018
Whole exome sequencing (WES) was used to determine the etiology of recurrent hydrops fetalis in this case of Hennekam lymphangiectasia-lymphedema syndrome-1.
Andreasen, Tara S, Lamale-Smith, Leah M, Mao, Rong, Melber, Dora J, Miller, Christine E, Moore, Thomas R, Tvrdik, Tatiana, Woelkers, Douglas A   +7 more
core  

Magnetic Resonance Imaging as a Readout of CLN5 Gene Therapy Efficacy in Sheep

Brain and Behavior, Volume 15, Issue 4, April 2025.
Sheep with CLN5 Batten disease that received combination intracerebroventricular and intravitreal gene therapy underwent MRI scanning to assess global and regional brain volumes and determine the value of MRI to detect therapeutic efficacy. Sheep that were treated pre‐symptomatically underwent longitudinal scanning between 5 and 18 months of age, while
Samantha J. Murray, Mustafa M. Almuqbel, Simon A. Felton, Nickolas J. Palmer, Ashley R. Deane, Daniel J. Myall, Reza Shoorangiz, Arsène Ella, Matthieu Keller, David N. Palmer, Tracy R. Melzer, Nadia L. Mitchell   +11 more
wiley   +1 more source

Pathological findings of central nervous system, two GM1 gangliosidosis autopsy cases

The Turkish Journal of Pediatrics, 2019
GM1 gangliosidosis is an autosomal recessive lysosomal storage disease which is characterized by the accumulation of GM1 ganglioside, sphingolipids, glycoprotein bound oligosaccharides and keratan sulphate.
Doğuş Özdemir Kara, Ahmet Şahpaz
doaj   +1 more source

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. [PDF]

PLoS ONE, 2009
BACKGROUND:Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder caused most commonly by a defect in the NPC1 protein and characterized by widespread intracellular accumulation of unesterified cholesterol and glycosphingolipids (GSLs ...
Cristin D Davidson, Nafeeza F Ali, Matthew C Micsenyi, Gloria Stephney, Sophie Renault, Kostantin Dobrenis, Daniel S Ory, Marie T Vanier, Steven U Walkley   +8 more
doaj   +1 more source

Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis. [PDF]

Mol Ther Methods Clin Dev
Quadrini KJ, Vrentas C, Duke C, Wilson C, Hinderer CJ, Weinstein DA, Al-Zaidy SA, Browne SE, Wilson JM, Ni YG.   +9 more
europepmc   +2 more sources