Introduction to Sanfilippo Syndrome

Sentence Examples

Discover more insights into Sanfilippo Syndrome

Keywords frequently search together with Sanfilippo Syndrome

Narrow sentence examples with built-in keyword filters

Sanfilippo Syndrome sentence examples within autosomal recessive lysosomal

autosomal recessive lysosomal

Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a rare autosomal recessive lysosomal disorder characterized by deficient heparan-N-sulfatase (HNS) activity, and subsequent accumulation of heparan sulfate, especially in the central nervous system.

A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.

autosomal recessive lysosomal

Background/aim Sanfilippo syndrome is an autosomal recessive lysosomal storage disorder caused by the deficiency of α-N-acetylglucosaminidase (NAGLU).

A rare NAGLU mutation in an Egyptian family with Sanfilippo B syndrome

More autosomal recessive lysosomal sentences More Sentences

Sanfilippo Syndrome sentence examples within lysosomal storage disease

lysosomal storage disease

Mucopolysaccharidosis IIIA (MPS IIIA, Sanfilippo syndrome type A), a paediatric neurological lysosomal storage disease, is caused by impaired function of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH) resulting in impaired catabolism of heparan sulfate glycosaminoglycan (HS GAG) and its accumulation in tissues.

An Engineered sgsh Mutant Zebrafish Recapitulates Molecular and Behavioural Pathobiology of Sanfilippo Syndrome A/MPS IIIA

lysosomal storage disease

 Sanfilippo syndrome (Mucopolysaccharidosis type III) is a group of four lysosomal storage diseases (types A, B, C and D) caused by different enzyme deficiencies that lead to accumulation of heparan sulfate in the central nervous system and visceral body tissues  Unlike other MPS disorders, Sanfilippo syndrome is characterized chiefly by neurological symptoms starting with developmental delay, behavioral problems and progressive neurodegeneration  The rarity of Sanfilippo syndrome (~1 in every 70,000 births) presents a major impediment to collecting comprehensive information about how it presents and affects patient health  To better understand how Sanfilippo syndrome affects patients and their families we extended ConnectMPS, an online patient registry represented by 27 advocacy organizations, to collect additional data regarding Sanfilippo syndrome.

Insights into Sanfilippo syndrome provided by the ConnectMPS worldwide online registry

More lysosomal storage disease sentences More Sentences

Sanfilippo Syndrome sentence examples within rare lysosomal storage

rare lysosomal storage

Mucopolysaccharidosis III (Sanfilippo syndromes) types A–D are rare lysosomal storage disorders characterized by heparan sulfate accumulation and neurodegeneration.

Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients

rare lysosomal storage

Sanfilippo syndrome (MPS III) is a rare lysosomal storage disease resulting from a deficiency in one of four enzymes needed to breakdown the glycosaminoglycan heparan sulfate.

The natural history of facial features observed in Sanfilippo syndrome (MPS IIIB) using a next generation phenotyping tool

More rare lysosomal storage sentences More Sentences

Learn more from Sanfilippo Syndrome

Sanfilippo Syndrome sentence examples within lysosomal storage disorder

lysosomal storage disorder

Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is an autosomal recessive, neurodegenerative lysosomal storage disorder.

The Complication of Endotracheal Intubation in a Patient with Mucopolysaccharidosis Type IIIA

lysosomal storage disorder

Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in one of four enzymes involved in the catabolism of the glycosaminoglycan heparan sulphate.

Mucopolysaccharidosis

More lysosomal storage disorder sentences More Sentences

Sanfilippo Syndrome sentence examples within central nervous system

central nervous system

BACKGROUND Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a lysosomal disorder wherein deficient heparan-N-sulfatase (HNS) activity results in the accumulation of heparan sulfate in the central nervous system and is associated with progressive neurodegeneration in early childhood.

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.

central nervous system

Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe, progressive disease that affects the central nervous system (CNS).

Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA

More central nervous system sentences More Sentences

Sanfilippo Syndrome sentence examples within recessive lysosomal storage

recessive lysosomal storage

Deficiencies in NAGLU activity lead to a rare, monogenic, recessive lysosomal storage disorder, Sanfilippo syndrome type B (MPS type IIIB).

Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016

More recessive lysosomal storage sentences More Sentences

Sanfilippo Syndrome sentence examples within sanfilippo syndrome type

sanfilippo syndrome type

Mucopolysaccharidosis IIIB (MPS IIIB, Sanfilippo syndrome type B) is caused by a deficiency in α-N-acetylglucosaminidase (NAGLU) activity, which leads to the accumulation of heparan sulfate (HS).

Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome.

sanfilippo syndrome type

Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a rare autosomal recessive lysosomal disorder characterized by deficient heparan-N-sulfatase (HNS) activity, and subsequent accumulation of heparan sulfate, especially in the central nervous system.

A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.

More sanfilippo syndrome type sentences More Sentences

More Sanfilippo Syndrome sentence examples
10.1016/j.ymgmr.2019.100477

In this study, we investigated the presence of autoantibodies in the plasma of patients with Gaucher disease (GD; n = 6), Sanfilippo Syndrome B (SFB; n = 8) and Niemann – Pick type C disease (NPC; n = 5) before and following Miglustat treatment (n = 3).

Prevalence of antibodies to ganglioside and Hep 2 in Gaucher, Niemann – Pick type C and Sanfilippo diseases

More Sanfilippo Syndrome sentence examples
10.1371/journal.pone.0207836

Sanfilippo syndrome type B (Sanfilippo B; Mucopolysaccharidosis type IIIB) occurs due to genetic deficiency of lysosomal alpha-N-acetylglucosaminidase (NAGLU) and subsequent lysosomal accumulation of heparan sulfate (HS), which coincides with devastating neurodegenerative disease.

BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis

More Sanfilippo Syndrome sentence examples
10.1089/hum.2019.217

However, some LSD, such as Mucopolysaccharidosis type III (MPSIII) diseases or Sanfilippo syndrome, represent a difficult challenge because patients suffer severe neurodegeneration with mild somatic alterations.

In vivo gene therapy for Mucopolysaccharidosis type III (Sanfilippo syndrome): A new treatment horizon.

More Sanfilippo Syndrome sentence examples
10.1016/j.ymgme.2019.05.005

Sanfilippo syndrome or mucopolysaccharidosis type III (MPS III) is a childhood metabolic disorder marked by neuropathology arising due to impaired heparan sulphate (HS) catabolism.

Evaluation of biomarkers for Sanfilippo syndrome.

More Sanfilippo Syndrome sentence examples
10.1111/nan.12548

Sanfilippo syndrome (mucopolysaccharidosis type IIIA; MPS IIIA) is an inherited paediatric‐onset neurodegenerative disorder caused by the lysosomal deficiency of sulphamidase with subsequent accumulation of heparan sulphate.

Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking α‐synuclein

More Sanfilippo Syndrome sentence examples
10.18388/abp.2019_2880

Lack of the N-alpha-acetylglucosaminidase gene is responsible for the occurrence of a rare disease - the Sanfilippo syndrome, type B.

Effect of glycosaminoglycans accumulation on the non-oxidative sulfur metabolism in mouse model of Sanfilippo syndrome, type B.

More Sanfilippo Syndrome sentence examples
10.1186/s13023-019-1112-7

BackgroundMucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulfate.

Cardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III

More Sanfilippo Syndrome sentence examples
10.1016/J.YMGME.2018.12.285

Sanfilippo syndrome (MPS III) is a rare, degenerative disorder with no approved therapies.

Meaningful treatment outcomes for Sanfilippo syndrome: A study of caregiver preferences and prioritization

More Sanfilippo Syndrome sentence examples
10.22037/IJCN.V13I4.19894

Background: Mucopolysaccharidosis IIIB (MPS IIIB) (Sanfilippo Syndrome Type B; OMIM 252920) is an autosomal recessive metabolic disorder caused by mutations in the NAGLU gene which encode lysosomal enzyme N-acetyl-glucosaminidase, involved in degradation of complex polysaccharide, heparan sulfate.

A Novel Pathogenic Variant in NAGLU (N-Acetyl-Alpha-Glucosaminidase) gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis

Learn more from Sanfilippo Syndrome

Keywords related to Sanfilippo

Keywords related to Syndrome

Sanfilippo Syndrome
Encyclopedia

What is/are Sanfilippo Syndrome?

Sanfilippo Syndrome - In this study, we investigated the presence of autoantibodies in the plasma of patients with Gaucher disease (GD; n = 6), Sanfilippo Syndrome B (SFB; n = 8) and Niemann – Pick type C disease (NPC; n = 5) before and following Miglustat treatment (n = 3). [1] Sanfilippo syndrome type B (Sanfilippo B; Mucopolysaccharidosis type IIIB) occurs due to genetic deficiency of lysosomal alpha-N-acetylglucosaminidase (NAGLU) and subsequent lysosomal accumulation of heparan sulfate (HS), which coincides with devastating neurodegenerative disease. [2] However, some LSD, such as Mucopolysaccharidosis type III (MPSIII) diseases or Sanfilippo syndrome, represent a difficult challenge because patients suffer severe neurodegeneration with mild somatic alterations. [3] Sanfilippo syndrome or mucopolysaccharidosis type III (MPS III) is a childhood metabolic disorder marked by neuropathology arising due to impaired heparan sulphate (HS) catabolism. [4] Sanfilippo syndrome (mucopolysaccharidosis type IIIA; MPS IIIA) is an inherited paediatric‐onset neurodegenerative disorder caused by the lysosomal deficiency of sulphamidase with subsequent accumulation of heparan sulphate. [5] Lack of the N-alpha-acetylglucosaminidase gene is responsible for the occurrence of a rare disease - the Sanfilippo syndrome, type B. [6] BackgroundMucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulfate. [7] Sanfilippo syndrome (MPS III) is a rare, degenerative disorder with no approved therapies. [8] Background: Mucopolysaccharidosis IIIB (MPS IIIB) (Sanfilippo Syndrome Type B; OMIM 252920) is an autosomal recessive metabolic disorder caused by mutations in the NAGLU gene which encode lysosomal enzyme N-acetyl-glucosaminidase, involved in degradation of complex polysaccharide, heparan sulfate. [9]

autosomal recessive lysosomal

Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a rare autosomal recessive lysosomal disorder characterized by deficient heparan-N-sulfatase (HNS) activity, and subsequent accumulation of heparan sulfate, especially in the central nervous system. [1] Background/aim Sanfilippo syndrome is an autosomal recessive lysosomal storage disorder caused by the deficiency of α-N-acetylglucosaminidase (NAGLU). [2] Sanfilippo syndrome type B, or mucopolysaccharidosis IIIB (MPS IIIB), is a rare autosomal recessive lysosomal storage disease caused by a deficiency of α-N-acetylglucosaminidase (NAGLU). [3] Mucopolysaccharidosis IIIA (MPS IIIA), also known as Sanfilippo syndrome type A, is an autosomal recessive lysosomal storage disorder. [4] Background/Objective Sanfilippo syndrome type B is an autosomal recessive lysosomal storage disorder caused by deficiencies of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). [5]

lysosomal storage disease

Mucopolysaccharidosis IIIA (MPS IIIA, Sanfilippo syndrome type A), a paediatric neurological lysosomal storage disease, is caused by impaired function of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH) resulting in impaired catabolism of heparan sulfate glycosaminoglycan (HS GAG) and its accumulation in tissues. [1] Sanfilippo syndrome (Mucopolysaccharidosis type III) is a group of four lysosomal storage diseases (types A, B, C and D) caused by different enzyme deficiencies that lead to accumulation of heparan sulfate in the central nervous system and visceral body tissues  Unlike other MPS disorders, Sanfilippo syndrome is characterized chiefly by neurological symptoms starting with developmental delay, behavioral problems and progressive neurodegeneration  The rarity of Sanfilippo syndrome (~1 in every 70,000 births) presents a major impediment to collecting comprehensive information about how it presents and affects patient health  To better understand how Sanfilippo syndrome affects patients and their families we extended ConnectMPS, an online patient registry represented by 27 advocacy organizations, to collect additional data regarding Sanfilippo syndrome. [2] Mucopolysaccharidosis type III (MPSIII), or Sanfilippo syndrome is a lysosomal storage disease with neurological manifestations in affected children. [3] BACKGROUND Mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome) is a lysosomal storage disease resulting in progressive neurocognitive decline during childhood and early demise. [4]

rare lysosomal storage

Mucopolysaccharidosis III (Sanfilippo syndromes) types A–D are rare lysosomal storage disorders characterized by heparan sulfate accumulation and neurodegeneration. [1] Sanfilippo syndrome (MPS III) is a rare lysosomal storage disease resulting from a deficiency in one of four enzymes needed to breakdown the glycosaminoglycan heparan sulfate. [2] BackgroundMucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) comprises a group of rare, lysosomal storage diseases caused by the deficiency of one of four enzymes involved in the degradation of heparan sulfate. [3] BackgroundSanfilippo syndrome type B (Sanfilippo B) belongs to a group of rare lysosomal storage diseases characterized by progressive cognitive decline from an early age, acute hyperactivity, and concomitant somatic symptoms. [4]

lysosomal storage disorder

Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is an autosomal recessive, neurodegenerative lysosomal storage disorder. [1] Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in one of four enzymes involved in the catabolism of the glycosaminoglycan heparan sulphate. [2] Increasing evidence suggests that the autism spectrum disorder (ASD) may be associated with inborn errors of metabolism, such as disorders of amino acid metabolism and transport [phenylketonuria, homocystinuria, S-adenosylhomocysteine hydrolase deficiency, branched-chain α-keto acid dehydrogenase kinase deficiency, urea cycle disorders (UCD), Hartnup disease], organic acidurias (propionic aciduria, L-2 hydroxyglutaric aciduria), cholesterol biosynthesis defects (Smith-Lemli-Opitz syndrome), mitochondrial disorders (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes—MELAS syndrome), neurotransmitter disorders (succinic semialdehyde dehydrogenase deficiency), disorders of purine metabolism [adenylosuccinate lyase (ADSL) deficiency, Lesch-Nyhan syndrome], cerebral creatine deficiency syndromes (CCDSs), disorders of folate transport and metabolism (cerebral folate deficiency, methylenetetrahydrofolate reductase deficiency), lysosomal storage disorders [Sanfilippo syndrome, neuronal ceroid lipofuscinoses (NCL), Niemann-Pick disease type C], cerebrotendinous xanthomatosis (CTX), disorders of copper metabolism (Wilson disease), disorders of haem biosynthesis [acute intermittent porphyria (AIP)] and brain iron accumulation diseases. [3] Mucopolysaccharidosis type III (Sanfilippo syndrome, MPS III), is a lysosomal storage disorder traditionally considered to be characterized by childhood onset, progressive neurocognitive deterioration with a rapidly or slowly progressing phenotype. [4]

central nervous system

BACKGROUND Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a lysosomal disorder wherein deficient heparan-N-sulfatase (HNS) activity results in the accumulation of heparan sulfate in the central nervous system and is associated with progressive neurodegeneration in early childhood. [1] Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe, progressive disease that affects the central nervous system (CNS). [2]

recessive lysosomal storage

Deficiencies in NAGLU activity lead to a rare, monogenic, recessive lysosomal storage disorder, Sanfilippo syndrome type B (MPS type IIIB). [1]

sanfilippo syndrome type

Mucopolysaccharidosis IIIB (MPS IIIB, Sanfilippo syndrome type B) is caused by a deficiency in α-N-acetylglucosaminidase (NAGLU) activity, which leads to the accumulation of heparan sulfate (HS). [1] Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a rare autosomal recessive lysosomal disorder characterized by deficient heparan-N-sulfatase (HNS) activity, and subsequent accumulation of heparan sulfate, especially in the central nervous system. [2] Mucopolysaccharidosis IIIA (MPS IIIA, Sanfilippo syndrome type A), a paediatric neurological lysosomal storage disease, is caused by impaired function of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH) resulting in impaired catabolism of heparan sulfate glycosaminoglycan (HS GAG) and its accumulation in tissues. [3] Sanfilippo syndrome type B (Sanfilippo B; Mucopolysaccharidosis type IIIB) occurs due to genetic deficiency of lysosomal alpha-N-acetylglucosaminidase (NAGLU) and subsequent lysosomal accumulation of heparan sulfate (HS), which coincides with devastating neurodegenerative disease. [4] BACKGROUND Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA) is a lysosomal disorder wherein deficient heparan-N-sulfatase (HNS) activity results in the accumulation of heparan sulfate in the central nervous system and is associated with progressive neurodegeneration in early childhood. [5] Deficiencies in NAGLU activity lead to a rare, monogenic, recessive lysosomal storage disorder, Sanfilippo syndrome type B (MPS type IIIB). [6] Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe, progressive disease that affects the central nervous system (CNS). [7] Sanfilippo syndrome type B, or mucopolysaccharidosis IIIB (MPS IIIB), is a rare autosomal recessive lysosomal storage disease caused by a deficiency of α-N-acetylglucosaminidase (NAGLU). [8] Mucopolysaccharidosis IIIA (MPS IIIA), also known as Sanfilippo syndrome type A, is an autosomal recessive lysosomal storage disorder. [9] BackgroundSanfilippo syndrome type B (Sanfilippo B) belongs to a group of rare lysosomal storage diseases characterized by progressive cognitive decline from an early age, acute hyperactivity, and concomitant somatic symptoms. [10] Background/Objective Sanfilippo syndrome type B is an autosomal recessive lysosomal storage disorder caused by deficiencies of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). [11] Background: Mucopolysaccharidosis IIIB (MPS IIIB) (Sanfilippo Syndrome Type B; OMIM 252920) is an autosomal recessive metabolic disorder caused by mutations in the NAGLU gene which encode lysosomal enzyme N-acetyl-glucosaminidase, involved in degradation of complex polysaccharide, heparan sulfate. [12]