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Mucopolysaccharidosis III: Molecular basis and treatment
Mucopolysaccharidoses (MPSs) are known as rare genetic diseases which are caused by
mutation in the enzyme heparin sulfate, which normally leads to degradation and …
mutation in the enzyme heparin sulfate, which normally leads to degradation and …
Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders
Lysosomal storage disorders characterized by altered metabolism of heparan sulfate,
including Mucopolysaccharidosis (MPS) III and MPS-II, exhibit lysosomal dysfunctions …
including Mucopolysaccharidosis (MPS) III and MPS-II, exhibit lysosomal dysfunctions …
Disease pathology signatures in a mouse model of Mucopolysaccharidosis type IIIB
Abstract Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare and devastating childhood-
onset lysosomal storage disease caused by complete loss of function of the lysosomal …
onset lysosomal storage disease caused by complete loss of function of the lysosomal …
[HTML][HTML] An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA
Mucopolysaccharidosis IIIA (MPS IIIA, Sanfilippo syndrome type A), a paediatric
neurological lysosomal storage disease, is caused by impaired function of the enzyme N …
neurological lysosomal storage disease, is caused by impaired function of the enzyme N …
Autistic feature as a presentation of inborn errors of metabolism
Autism spectrum disorder (ASD) is a category of neurodevelopmental disorders
characterized by social and communication impairment and restricted or repetitive …
characterized by social and communication impairment and restricted or repetitive …
[HTML][HTML] Synaptic alterations in a transgenic model of tuberous sclerosis complex: relevance to autism spectrum disorders
GA Czapski, L Babiec, H Jęśko… - International Journal of …, 2021 - mdpi.com
Tuberous sclerosis complex (TSC) is a rare, multi-system genetic disease with serious
neurological and mental symptoms, including autism. Mutations in the TSC1/TSC2 genes …
neurological and mental symptoms, including autism. Mutations in the TSC1/TSC2 genes …
Photobiomodulation in the infrared spectrum reverses the expansion of circulating natural killer cells and brain microglial activation in Sanfilippo mice
AA Lau, K **, H Beard, T Windram, K **e… - Journal of …, 2024 - Wiley Online Library
Sanfilippo syndrome results from inherited mutations in genes encoding lysosomal enzymes
that catabolise heparan sulfate (HS), leading to early childhood‐onset neurodegeneration …
that catabolise heparan sulfate (HS), leading to early childhood‐onset neurodegeneration …
Serotonin 5-HT1A, 5-HT2A, and 5-HT7 Receptors in the Brain of the BTBR Mouse the Model of Autism
AY Rodnyy, EA Kulikova, EM Kondaurova… - Neurochemical …, 2021 - Springer
Autism spectrum disorders (ASD) are one of the major epidemiological problems for
humanity. Despite tremendous efforts undertaken by the scientific community, the …
humanity. Despite tremendous efforts undertaken by the scientific community, the …
[HTML][HTML] Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA
K Pericleous, C McIntyre, M Fuller - Molecular Genetics and Metabolism …, 2023 - Elsevier
Abstract Mucopolysaccharidosis type IIIA (MPS IIIA) is an inherited metabolic disorder
caused by a lysosomal enzyme deficiency resulting in heparan sulphate (HS) accumulation …
caused by a lysosomal enzyme deficiency resulting in heparan sulphate (HS) accumulation …
Safety and Efficacy of Genistein in Sanfilippo Syndrome-A Systematic Review
Background: Sanfilippo syndrome, commonly known as mucopolysaccharidosis type III
(MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the …
(MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the …