Results 81 to 90 of about 4,207 (192)

Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder

JIMD Reports, Volume 66, Issue 4, July 2025.
Schematic illustrating the study design and key findings. Figure created in Biorender.com. ABSTRACT Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem neurodegenerative disease caused by biallelic pathogenic variants in SLC17A5, encoding sialin.
Marya S. Sabir, Laura Pollard, Lynne Wolfe, David R. Adams, Carla Ciccone, Petcharat Leoyklang, Frances M. Platt, Marjan Huizing, William A. Gahl, May Christine V. Malicdan   +9 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

Risk of hypertensive disorders in pregnancies with non‐immune hydrops fetalis and single fetal effusions

Pregnancy, Volume 1, Issue 4, July 2025.
Abstract Introduction Hydrops fetalis carries high risks of morbidity and mortality for the fetus, as well as obstetric risks such as hypertensive disorders, or mirror syndrome, for the pregnant person. We aimed to characterize the prevalence and types of hypertensive disorders diagnosed in pregnancies with non‐immune hydrops fetalis and single ...
Natalie B. Gulrajani, Diana C. Robles, Juan M. Gonzalez, Mary E. Norton, Teresa N. Sparks   +4 more
wiley   +1 more source

PAS-positive lymphocyte vacuoles can be used as diagnostic screening test for Pompe disease [PDF]

, 2010
Screening of blood films for the presence of periodic acid-Schiff (PAS)-positive lymphocyte vacuoles is sometimes used to support the diagnosis of Pompe disease, but the actual diagnostic value is still unknown.
Marloes L. C. Hagemans, Rolinda L. Stigter, Carine I. van Capelle, Nadine A. M. E. van der Beek, Leon P. F. Winkel, Laura van Vliet, Wim C. J. Hop, Arnold J. J. Reuser, Auke Beishuizen, Ans T. van der Ploeg, G Anderson, JB Bain, T Barsy de, FGJ Hayhoe, K Ikeda, BJ Maron, WJ Mitus, F Muntoni, T Okumiya, V Straub, V Straub, PS Trend, AT Ploeg van der, OP Diggelen van, DB Bassewitz von, B Winchester, LP Winkel, LP Winkel   +27 more
core   +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

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

Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.

PLoS ONE, 2013
Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis.
Daisuke Hasegawa, Shinji Tamura, Yuya Nakamoto, Naoaki Matsuki, Kimimasa Takahashi, Michio Fujita, Kazuyuki Uchida, Osamu Yamato   +7 more
doaj   +1 more source

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

Journal of Lipid Research, 2007
GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by β-galactosidase deficiency attributable to mutations in the GLB1 gene.
Raül Santamaria, Amparo Chabás, John W. Callahan, Daniel Grinberg, Lluïsa Vilageliu   +4 more
doaj   +1 more source

Refining Humane Endpoints in Mouse Models of Disease by Systematic Review and Machine Learning-Based Endpoint Definition [PDF]

, 2019
Ideally, humane endpoints allow for early termination of experiments by minimizing an animal’s discomfort, distress and pain, while ensuring that scientific objectives are reached.
Banneke, Stefanie, Dirnagl, Ulrich, Emmrich, Julius V., Endres, Matthias, Harms, Christoph, Hoffmann, Christian J., Kuffner, Melanie T. C., Lips, Janet, Mei, Jie   +8 more
core   +1 more source

White matter changes in GM1 gangliosidosis

Indian Pediatrics, 2015
GM1 gangliosidosis is a disorder due to GLB1 gene mutation.A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging.Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing.We highlight the white matter changes in late infantile GM1 gangliosidosis.
Moni, Tuteja, Abdul Mueed, Bidchol, Katta Mohan, Girisha, Shubha, Phadke   +3 more
openaire   +2 more sources