Results 61 to 70 of about 15,504 (206)

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE). [PDF]

Orphanet J Rare Dis
The GM1 and GM2 gangliosidoses and type 2 Gaucher disease (GD2) are inherited lysosomal storage disorders with most cases having symptom onset in infancy and reduced life expectancy. The conditions are rare, and there is therefore a need for accurate and
Héron B, Batzios S, Mengel E, Giugliani R, Patterson M, Gautschi M, Cornelisse P, Trokan L, Schwierin B, Rohrbach M.   +9 more
europepmc   +2 more sources

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis

Molecular Genetics and Metabolism Reports, 2019
GM1 gangliosidosis is an autosomal recessive neurodegenerative disorder caused by the deficiency of lysosomal β-galactosidase (β-gal) and resulting in accumulation of GM1 ganglioside.
Yvonne L. Latour, Robin Yoon, Sarah E. Thomas, Christina Grant, Cuiling Li, Miguel Sena-Esteves, Maria L. Allende, Richard L. Proia, Cynthia J. Tifft   +8 more
doaj   +1 more source

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency [PDF]

, 2021
INTRODUCTION: This study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB).
Al Khouri, M, Alembik, Y, Arnoux, J-B, Baruteau, J, Bekri, S, Brassier, A, Brehin, A-C, Busa, T, Caillaud, C, Cano, A, Chabrol, B, Coubes, C, Coutant, S, Dabaj, I, Desguerre, I, Doco-Fenzy, M, Domitille, L, Dranguet, H, Drenou, B, Elcioglu, NH, Elsayed, S, Fouilhoux, A, Froissart, R, Goldenberg, A, Heron, B, Jouvencel, P, Kuster, A, Labarthe, F, Lazaro, L, Levade, T, Marret, S, Pichard, S, Poirsier, C, Rivera, S, Roche, S, Roggerone, S, Roubertie, A, Saugier-Veber, P, Sigaudy, S, Snanoudj, S, Spodenkiewicz, M, Sudrié-Arnaud, B, Tardieu, M, Tebani, A, Torre, S, Vanhulle, C, Vergnaud, S   +46 more
core  

Brain Age Prediction in Type II GM1 Gangliosidosis

medRxiv
GM1 gangliosidosis is an inherited, progressive, and fatal neurodegenerative lysosomal storage disorder with no approved treatment. We calculated a predicted brain ages and Brain Structures Age Gap Estimation (BSAGE) for 81 MRI scans from 41 Type II GM1 ...
Connor J. Lewis, S. I. Chipman, Precilla D'Souza, Jean M. Johnston, Muhammad H Yousef, W. A. Gahl, C. Tifft, M. Acosta   +7 more
semanticscholar   +1 more source

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

JIMD Reports, 2019
GM1 gangliosidosis is a lysosomal storage disorder caused by β‐galactosidase deficiency. To date, prospective studies for GM1 gangliosidosis are not available, and only a few have focused on the adult form.
Luciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, Charles Marques Lourenço, Mara Lucia Schmitz Ferreira Santos, Carolina Fischinger Moura deSouza, Ana Carolina Brusius‐Facchin, Guilherme Baldo, Mariluce Riegel, Roberto Giugliani   +9 more
doaj   +1 more source

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

BMC Medical Genetics, 2017
Background Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly.
Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi   +8 more
doaj   +1 more source

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system

Brain Pathology, Volume 36, Issue 1, January 2026.
Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li, Haoying He, Ejuan Zhang, Fengjiao Hu, Zhuo Wang, Jian Xu, Mengliu Zeng, Biwen Peng   +7 more
wiley   +1 more source

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

medRxiv
Purpose. GM1 gangliosidosis (GM1) is an ultra-rare lysosomal storage disease caused by pathogenic variants in galactosidase beta 1 (GLB1; NM_000404), primarily characterized by neurodegeneration, often in children.
Precilla D’Souza, Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David Adams, Adam L. Hartman, Wadih Zein, Laryssa A. Huryn, Beth Solomon, Kelly King, Christopher P. Jordan, Jennifer G. Myles, Elena-Raluca Nicoli, C. Rothermel, Yoliann Mojica Algarin, Reyna Huang, Rachel Quimby, Mosufa Zainab, Sarah Bowden, Anna Crowell, A. Buckley, Carmen Brewer, Debra S Regier, Brian P. Brooks, Eva H Baker, Gilbert Vezina, Audrey Thurm, C. Tifft   +27 more
semanticscholar   +2 more sources

Spasmodic Dysphonia

World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 548-567, December 2025.
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley   +1 more source