Results 51 to 60 of about 4,924 (178)

Natural History of Infantile GM2 Gangliosidosis

, 2011
OBJECTIVE: GM2 gangliosidoses are caused by an inherited deficiency of lysosomal β-hexosaminidase and result in ganglioside accumulation in the brain.
Kim Kubilus, Annette E. Bley, Florian S. Eichler, Cynthia J. Tifft, Doug Hayden, Ourania A. Giannikopoulos   +5 more
core   +1 more source

Genetics of Juvenile Spinal Muscular Atrophy

Pediatric Neurology Briefs, 1997
A 20-year-old female with difficulties in running and climbing stairs since age 10 and suspected of having spinal muscular atrophy (SMA) type III (Kugelberg-Welander disease) was diagnosed with GM2 gangliosidosis at the Department of Human Genetics ...
J Gordon Millichap
doaj   +1 more source

Home‐Based Parenting Strategies and Challenges of Primary Parental Caregivers of Children With Medical Complexity in Japan: A Qualitative Study

Child: Care, Health and Development, Volume 52, Issue 4, July 2026.
ABSTRACT Background In Japan, the number of children with medical complexity (CMC) is increasing. In response, the Act on Support for Children Requiring Constant Medical Care and Their Families mandated prefectural support centre establishment and promoted coordination across health, welfare and education sectors.
Miku Yamaguchi, Yuki Suzuki
wiley   +1 more source

Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain

Journal of Lipid Research, 1972
Analyses have been made of glycosphingolipids from visceral organs and brain of a patient with an unusual lipid storage disorder diagnosed initially as classical Tay-Sachs disease. Levels of the lipids from fresh-frozen sections of gray and white matter,
Paul D. Snyder, Jr., William Krivit, Charles C. Sweeley   +2 more
doaj   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1106-1117, June 2026.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Neuromuscular synaptic transmission in aged ganglioside-deficient mice [PDF]

, 2011
Gangliosides are sialylated glycosphingolipids that are present in high density on neuronal membranes, especially at synapses, where they are assumed to play functional or modulating roles.
Todorov, Boyan, Furukawa, Keiko, Furukawa, K., Plomp, J.J., Verschuuren, Jan J., Willison, H.J., Furukawa, Koichi, Plomp, Jaap J., Jacobs, B.C., Todorov, B., Willison, Hugh J., Jacobs, Bart C., Zitman, F.M.P., Verschuuren, J.J., Zitman, Femke M.P.   +14 more
core   +1 more source

THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS (MUNGOS MUNGO).

, 2018
This study reports the occurrence of the lysosomal storage disease GM2 gangliosidosis (Sandhoff disease) in two 11-mo-old captive-bred, male and female mongoose siblings ( Mungos mungo). The clinical signs and the pathological findings reported here were
Wenker, Christian, Nadia Robert, Kühni-Boghenbor, Kathrin, Sewell, Adrian C, Hoby, Stefan, Farwanah, Hany, Wimmershoff, Julia, Michael H. Stoffel, Stoffel, Michael Hubert, Adrian C. Sewell, Anna Oevermann, Christian Wenker, Julia Wimmershoff, Kathrin Kuehni-Boghenbor, Hany Farwanah, Stefan Hoby, Oevermann, Anna, Robert, Nadia   +17 more
core   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

White Matter Pathology as a Barrier to Gangliosidosis Gene Therapy

Frontiers in Cellular Neuroscience, 2021
The gangliosidoses are a family of neurodegenerative lysosomal storage diseases that have recently seen promising advances in gene therapy. White matter deficits are well established components of gangliosidosis pathology that are now receiving more ...
Anne S. Maguire, Anne S. Maguire, Douglas R. Martin, Douglas R. Martin   +3 more
doaj   +1 more source

Hexa-associated GM2 gangliosidosis in a family of wild boars [PDF]

, 2019
Gangliosidosis are inherited lysosomal storage disorders caused by defective activity of a lysosomal hydrolase required for ganglioside catabolism, resulting in the intra-lysosomal accumulation of undegraded metabolites.
Prioni, S, Grassi, S, Cantoni, AM, Bertani, V, Drogemuller, C, Sonnino, S, Cabitta L, Corradi, A, Jagannathan, V   +8 more
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