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http://dx.doi.org/10.4103/aian.aian_577_21 | DOI Listing |
J Spec Educ Technol
March 2024
Center for Education in Health Sciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Neurology
January 2024
From the Department of Neuropediatrics (J.K., J.B., V.S., S. Groeschel, I.K.-M.), Developmental Neurology and Social Pediatrics, University of Tübingen; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS) (D.T.), University Hospital Essen, University of Duisburg-Essen; Department of Neuropediatrics (R.T.), Friedrich-Alexander University of Erlangen-Nürnberg; Department of Neurology (C.S.), Friedrich-Baur-Institute, University Hospital LMU, Munich; Department of Neurology (C.K.), University of Rostock; Department of Pediatrics (M.R.), University of Göttingen; Institute of Medical Genetics and Applied Genomics (S.B.-W.), University of Tübingen; Institute of Diagnostic and Interventional Radiology and Neuroradiology (S. Göricke), Essen University Hospital, University of Duisburg-Essen; and Research Division Translational Genomics of Neurodegenerative Diseases (M.S.), Center for Neurology & Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases, Germany.
Background And Objectives: GM2 gangliosidoses, a group of autosomal-recessive neurodegenerative lysosomal storage disorders, result from β-hexosaminidase (HEX) deficiency with GM2 ganglioside as its main substrate. Historically, GM2 gangliosidoses have been classified into infantile, juvenile, and late-onset forms. With disease-modifying treatment trials now on the horizon, a more fine-grained understanding of the disease course is needed.
View Article and Find Full Text PDFEur J Neurol
September 2023
Pediatric Neurology Division, Department of Pediatrics, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Background: Since the results of previous studies regarding the safety and efficacy of miglustat in GM2 gangliosidosis (GM2g) were inconsistent, we aimed to assess miglustat therapy in GM2g patients.
Methods: This study followed the latest version of PRISMA. We included the observational or interventional studies reporting GM2g patients under miglustat therapy by searching PubMed, Web of Science, and Scopus.
R Soc Open Sci
April 2023
Tropical Marine Science Institute, National University of Singapore, 119277, Singapore.
The spawning and larval culture of cowrie (family Cypraeidae) are both difficult and little known, in part due to the long planktonic period of most species. In this study, we describe the captive spawning behaviour and larval development of two tropical cowrie species, and . Both species brooded over their egg masses before hatching occurred and larvae were collected for culture under laboratory conditions.
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