Facial grimacing as a clue for the diagnosis of GM1 type 3 gangliosidosis

Facial grimacing as a clue for the diagnosis of GM1 type 3 gangliosidosis

Bibliographic Details
Main Authors:	R O H Maciel, J L Pedroso, O G P Barsottini
Format:	Article
Language:	English
Published:	Academia Brasileira de Neurologia (ABNEURO) 2011-01-01
Series:	Arquivos de Neuro-Psiquiatria
Online Access:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2011000300028&lng=en&tlng=en

Similar Items

GM1 Gangliosidosis Type 1 and Mongolian Spots
by: J Gordon Millichap
Published: (2013-06-01)

GM1 gangliosidosis : therapy and pathogenesis
by: Elliot-Smith, Elena
Published: (2005)

GM1 Gangliosidosis: Mechanisms and Management
by: Rha AK, et al.
Published: (2021-04-01)

On the nature of the enzyme defect(s) in GM1-gangliosidosis types 1, 2 and 3
by: Miller, Jack
Published: (1974)

Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis)
by: Kunihiko Suzuki, et al.
Published: (1967-03-01)

GM1 Gangliosidosis—A Mini-Review
by: Elena-Raluca Nicoli, et al.
Published: (2021-09-01)

Characterization of glycan substrates accumulating in GM1 Gangliosidosis
by: Roger Lawrence, et al.
Published: (2019-12-01)

Filipin recognizes both GM1 and cholesterol in GM1 gangliosidosis mouse brain
by: Julian R. Arthur, et al.
Published: (2011-07-01)

Progressive dystonia as a presenting manifestation of GM1 gangliosidosis
by: Sahil Mehta, et al.
Published: (2019-01-01)

Clinical findings in Brazilian patients with adult GM1 gangliosidosis
by: Luciana Giugliani, et al.
Published: (2019-09-01)

Biochemical characterization of the GM2 gangliosidosis B1 variant
by: J.C. Tutor
Published: (2004-06-01)

Animal models of GM2 gangliosidosis: utility and limitations
by: Lawson CA, et al.
Published: (2016-07-01)

Myelin abnormalities in the optic and sciatic nerves of mice with GM1-gangliosidosis
by: Heinecke, Karie A.
Published: (2014)

GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice
by: Natalia V. Zhurkova, et al.
Published: (2021-01-01)

Wishbone pattern of iron accumulation: A pathognomonic sign of type III GM1 gangliosidosis
by: Shweta Prasad, et al.
Published: (2019-01-01)

An Evalution of the Demographic and Clinical Characterictics of Patients with GM2 Gangliosidosis
by: Esra Er, et al.
Published: (2018-03-01)

GM1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots
by: Imad Dweikat, et al.
Published: (2011-01-01)

Feasibility study of cyclodextrins as active pharmaceutical ingredients for the treatment of GM1-gangliosidosis
by: Yuki Maeda, et al.
Published: (2016-02-01)

Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing
by: Ahmed Bouhouche, et al.
Published: (2018-01-01)

Serial MRI Features of Canine GM1 Gangliosidosis: A Possible Imaging Biomarker for Diagnosis and Progression of the Disease
by: Daisuke Hasegawa, et al.
Published: (2012-01-01)

Cysts in White Matter: A Novel Neuroimaging Finding in Infantile GM1 Gangliosidosis
by: Mahesh Kamate
Published: (2018-01-01)

Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis
by: Marcella B. Baptista MSc, et al.
Published: (2016-04-01)

Biochemical and genetic studies on GM2-Gangliosidosis : Tay-Sachs disease and variants
by: Ribeiro, Maria Gil Roseira
Published: (2009)

Lipid - specific T cells in fabry disease, gaucher disease and GM2 gangliosidosis
by: Cátia Sofia de Oliveira Pereira
Published: (2019)

Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice
by: J.L. Kasperzyk, et al.
Published: (2005-04-01)

Facial expressions of pain in cats : the development and validation of the Feline Grimace Scale
by: Cayetano Evangelista, Marina
Published: (2021)

Anàlisi genètica i molecular de les malalties Gangliosidosi GM1 i Morquio B
by: Santamaría Merino, Raúl
Published: (2007)

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients
by: Raül Santamaria, et al.
Published: (2007-10-01)

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
by: Rita Fischetto, et al.
Published: (2020-10-01)

Molecular characterization of [beta]-hexosaminidase A deficiency in a late-onset GM2 gangliosidosis Type I patient
by: Petroulakis, Emmanuel
Published: (2013)

Molecular characterization of [beta]-hexosaminidase A deficiency in a late-onset GM2 gangliosidosis Type I patient
by: Petroulakis, Emmanuel
Published: (2013)

Gangliosidosis generalizada tipo 1
by: Iván Hernández García, et al.

Infantile Gangliosidosis
by: J Gordon Millichap
Published: (1988-08-01)

AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival.
by: Rena C Baek, et al.
Published: (2010-10-01)

Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity
by: Wu Jer-Yuarn, et al.
Published: (2010-09-01)

Juvenile GM2 Gangliosidosis: A Model for Investigation of Small-molecule Therapies for Lysosomal Storage Diseases
by: Maegawa, Gustavo Henrique Boff
Published: (2008)

Juvenile GM2 Gangliosidosis: A Model for Investigation of Small-molecule Therapies for Lysosomal Storage Diseases
by: Maegawa, Gustavo Henrique Boff
Published: (2008)

Transient high-level expression of ß-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA
by: R.C. Balestrin, et al.
Published: (2008-04-01)

Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased <sup>1</sup>H NMR-Linked Metabolomics Strategy
by: Benita C. Percival, et al.
Published: (2021-03-01)

The observation of cell membrane damage caused by the interaction between oligomer Amyloid-Beta 1-42 and GM1 gangliosidosis in lipid raft
by: Wei Ju Chen, et al.
Published: (2013)