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Sanfilippo Syndrome sentence examples within 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.
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Background/aim Sanfilippo syndrome is an autosomal recessive lysosomal storage disorder caused by the deficiency of α-N-acetylglucosaminidase (NAGLU).
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Sanfilippo Syndrome sentence examples within 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.
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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.
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Sanfilippo Syndrome sentence examples within rare lysosomal storage
Mucopolysaccharidosis III (Sanfilippo syndromes) types A–D are rare lysosomal storage disorders characterized by heparan sulfate accumulation and neurodegeneration.
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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.
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Sanfilippo Syndrome sentence examples within lysosomal storage disorder
Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is an autosomal recessive, neurodegenerative lysosomal storage disorder.
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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.
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Sanfilippo Syndrome sentence examples within 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.
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Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe, progressive disease that affects the central nervous system (CNS).
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Sanfilippo Syndrome sentence examples within recessive lysosomal storage
Deficiencies in NAGLU activity lead to a rare, monogenic, recessive lysosomal storage disorder, Sanfilippo syndrome type B (MPS type IIIB).
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Sanfilippo Syndrome sentence examples within 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).
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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.
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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).
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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.
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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.
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Sanfilippo syndrome or mucopolysaccharidosis type III (MPS III) is a childhood metabolic disorder marked by neuropathology arising due to impaired heparan sulphate (HS) catabolism.
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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.
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Lack of the N-alpha-acetylglucosaminidase gene is responsible for the occurrence of a rare disease - the Sanfilippo syndrome, type B.
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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.
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Sanfilippo syndrome (MPS III) is a rare, degenerative disorder with no approved therapies.
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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.
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