[HTML][HTML] GM2 gangliosidoses: clinical features, pathophysiological aspects, and current therapies
AF Leal, E Benincore-Flórez, D Solano-Galarza… - International journal of …, 2020 - mdpi.com
GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside
accumulation into the lysosome due to mutations on the genes encoding for the β …
accumulation into the lysosome due to mutations on the genes encoding for the β …
The endo-lysosomal system in Parkinson's disease: Expanding the horizon
A Muraleedharan, B Vanderperre - Journal of Molecular Biology, 2023 - Elsevier
Parkinson's disease (PD) is the second most common neurodegenerative disorder after
Alzheimer's disease, and its prevalence is increasing with age. A wealth of genetic evidence …
Alzheimer's disease, and its prevalence is increasing with age. A wealth of genetic evidence …
Hyperacusis: Loudness intolerance, fear, annoyance and pain
Hyperacusis is a debilitating loudness intolerance disorder that can evoke annoyance, fear
and aural facial pain. Although the auditory system seems to be the “central” player …
and aural facial pain. Although the auditory system seems to be the “central” player …
[HTML][HTML] Pharmaceutical chaperones and proteostasis regulators in the therapy of lysosomal storage disorders: current perspective and future promises
Different approaches have been utilized or proposed for the treatment of lysosomal storage
disorders (LSDs) including enzyme replacement and hematopoietic stem cell transplant …
disorders (LSDs) including enzyme replacement and hematopoietic stem cell transplant …
Macrocephaly: solving the diagnostic dilemma
Macrocephaly is a relatively common clinical condition affecting up to 5% of the pediatric
population. It is defined as an abnormally large head with an occipitofrontal circumference …
population. It is defined as an abnormally large head with an occipitofrontal circumference …
[HTML][HTML] Tay-sachs disease
PK Ramani, BP Sankaran - StatPearls [Internet], 2023 - ncbi.nlm.nih.gov
Tay-Sachs Disease - StatPearls - NCBI Bookshelf US flag An official website of the United
States government Here's how you know NIH NLM Logo Access keys NCBI Homepage …
States government Here's how you know NIH NLM Logo Access keys NCBI Homepage …
[HTML][HTML] The effects of N-Acetyl-L-Leucine on the improvement of symptoms in a patient with multiple sulfatase deficiency
Abstract Multiple Sulfatase Deficiency (MSD) is a rare autosomal recessive disease with
specific clinical findings such as psychomotor retardation and neurological deterioration. No …
specific clinical findings such as psychomotor retardation and neurological deterioration. No …
[HTML][HTML] Advances in sphingolipidoses: CRISPR-Cas9 editing as an option for modelling and therapy
R Santos, O Amaral - International Journal of Molecular Sciences, 2019 - mdpi.com
Sphingolipidoses are inherited genetic diseases characterized by the accumulation of
glycosphingolipids. Sphingolipidoses (SP), which usually involve the loss of sphingolipid …
glycosphingolipids. Sphingolipidoses (SP), which usually involve the loss of sphingolipid …
[HTML][HTML] Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations
AR Tavasoli, N Parvaneh, MR Ashrafi, Z Rezaei… - Orphanet Journal of …, 2018 - Springer
Abstract Background Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is
classified as a lysosomal storage disorder. The most common symptoms of affected …
classified as a lysosomal storage disorder. The most common symptoms of affected …
[HTML][HTML] Approach to neurometabolic diseases from a pediatric neurological point of view
P Karimzadeh - Iranian journal of child neurology, 2015 - ncbi.nlm.nih.gov
Approach to Neurometabolic Diseases from a Pediatric Neurological Point of View - PMC Back
to Top Skip to main content NIH NLM Logo Access keys NCBI Homepage MyNCBI Homepage …
to Top Skip to main content NIH NLM Logo Access keys NCBI Homepage MyNCBI Homepage …