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(mucopolysaccharidosis)
7,561 results
  • Canine Models of Inherited Musculoskeletal and Neurodegenerative Diseases. [Review]
    Front Vet Sci. 2020; 7:80.Story BD, Miller ME, … Gray-Edwards HL
  • Mouse models of human disease remain the bread and butter of modern biology and therapeutic discovery. Nonetheless, more often than not mouse models do not reproduce the pathophysiology of the human conditions they are designed to mimic. Naturally occurring large animal models have predominantly been found in companion animals or livestock because of their emotional or economic value to modern so…
  • Difficulties experienced by Turkish parents and their coping strategies: Children with Mucopolysaccharidosis. [Journal Article]
    J Pediatr Nurs. 2020 Mar 23 [Online ahead of print]Zengin M, Yayan EH, Akıncı A
  • CONCLUSIONS: This study determined that parents of children with an MPS diagnosis had many difficulties related to multi-systemic problems (orthopaedic problems, vision and hearing problems, speech disorders, cardiac problems) caused by the disease.Parents should receive support from healthcare professionals to develop coping strategies that are appropriate for the physical and psychological difficulties experienced and to comply with the disease.
  • Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome). [Case Reports]
    Am J Med Genet A. 2020 Mar 26 [Online ahead of print]Peretz RH, Flora CH, Adams DJ
  • Mucopolysaccharidosis Type IVA (MPS IVA), also known as Morquio A syndrome, is an autosomal recessive lysosomal storage disorder that results from variants in the GALNS gene that encodes the enzyme galactosamine-6-sulfate sulfatase. This syndrome has systemic manifestations including, but not limited to, musculoskeletal, respiratory, cardiovascular, rheumatologic, neurologic, dental, ophthalmolog…
  • A basic understanding of mucopolysaccharidosis: Incidence, clinical features, diagnosis, and management. [Review]
    Intractable Rare Dis Res. 2020 Feb; 9(1):1-9.Zhou J, Lin J, … Wang L
  • Mucopolysaccharidoses (MPS) are a group of rare lysosomal storage diseases (LSD) with multi-organic and severe symptoms. MPS occur worldwide in various forms though have relative a low incidence. The prevalent type of MPS varies among different continents, indicating that it may be associated with region and ethnic background. Undegraded glycosaminoglycans (GAGs) induced by deficiency of enzymes …
  • Retinal Degeneration in MPS-IIIA Mouse Model. [Journal Article]
    Front Cell Dev Biol. 2020; 8:132.Intartaglia D, Giamundo G, … Sorrentino NC
  • Mucopolysaccharidosis type IIIA (MPS-IIIA, Sanfilippo A) is one of the most severe lysosomal storage disorder (LSD) caused by the inherited deficiency of sulfamidase, a lysosomal sulfatase enzyme involved in the stepwise degradation of heparan sulfates (HS). MPS-IIIA patients show multisystemic problems, including a strong impairment of central nervous system (CNS), mild somatic involvement, and …
  • Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII. [Journal Article]
    Mol Genet Metab. 2020 Mar 06 [Online ahead of print]Cadaoas J, Boyle G, … Kakkis E
  • Mucopolysaccharidosis VII (MPS VII) is a rare lysosomal storage disease characterized by a deficiency in the enzyme β-glucuronidase that has previously been successfully treated in a mouse model with enzyme replacement therapy. Here, we present the generation of a novel, highly sialylated version of recombinant human β-glucuronidase (rhGUS), vestronidase alfa, that has high uptake, resulting in a…
  • Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. [Review]
    J Appl Genet. 2020 Mar 18 [Online ahead of print]Switonski M
  • Rapid progress in knowledge of the organization of the dog genome has facilitated the identification of the mutations responsible for numerous monogenic diseases, which usually present a breed-specific distribution. The majority of these diseases have clinical and molecular counterparts in humans. The affected dogs have thus become valuable models for preclinical studies of gene therapy for probl…
  • Mucopolysaccharidosis Type I. [Review]
    Diagnostics (Basel). 2020 Mar 16; 10(3)Kubaski F, de Oliveira Poswar F, … Giugliani R
  • Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of α-l-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment. The classical form is known as Hurler syndrome, the intermediate form as Hurler-Scheie, and the most attenuated form is known as Scheie syndrome. Phenotype seems …
  • TRPML Cation Channels in Inflammation and Immunity. [Review]
    Front Immunol. 2020; 11:225.Spix B, Chao YK, … Grimm C
  • Background: In 1883, Ilya Mechnikov discovered phagocytes and established the concept of phagocytosis by macrophages. In 1908, he was awarded the Nobel Prize in Physiology/Medicine for his findings, which laid the foundations for today's understanding of the innate immune response. Only in the 1960s, Max Cooper and Robert Good significantly advanced our understanding of the immune system by demo…
  • Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease. [Journal Article]
    Orphanet J Rare Dis. 2020 Mar 17; 15(1):73.Wang RY, Rudser KD, … Montaño AM
  • CONCLUSIONS: Increased carotid elasticity in Morquio A patients is an unexpected contrast to the reduced elasticity observed in other MPS. These Morquio A cIMT findings corroborate MPS IVA arterial post-mortem reports and are consistent with cIMT of other MPS. Aortic root dilatation in Morquio A indicates arterial elastin dysfunction, but their carotid hyperelasticity indicates other vascular intima/media components, such as proteoglycans, may also influence artery function. Studying MPS I and IVA model systems may uniquely illuminate the function of glycosaminoglycan-bearing proteoglycans in arterial health.
  • Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses. [Journal Article]
    Diagnostics (Basel). 2020 Mar 13; 10(3)Baydakova G, Ilyushkina A, … Zakharova E
  • Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders associated with impaired glycosaminoglycans (GAGs) catabolism. In MPS I, II, III, and VII, heparan sulfate (HS) cannot be degraded because of the lack of sufficient activity of the respective enzymes, and its accumulation in the brain causes neurological symptoms. Globotriaosylsphingosine (LysoGb3), the deacylated form of glo…
  • Atlantoaxial instability treated with free-hand C1-C2 fusion in a child with Morquio syndrome. [Journal Article]
    Childs Nerv Syst. 2020 Mar 14 [Online ahead of print]Moon E, Lee S, … Park JH
  • Mucopolysaccharidosis type IVA, also known as Morquio syndrome, is an autosomal recessive lysosomal storage disease. Skeletal dysplasia with short stature, dysplastic-hypoplastic dens (os odontoideum), ligamentous hyperlaxity, and C1-C2 instability are characteristic features. Most patients with Morquio syndrome present with compressive myelopathy at a young age as a result of a combination of C1…
  • Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis. [Journal Article]
    J Child Neurol. 2020 Mar 11 [Online ahead of print]Patel P, Antoniou G, … Williams N
  • Mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage diseases with multisystem manifestations, including carpal tunnel syndrome (CTS). This study comprised a systematic review of literature and hospital guidelines addressing the method and frequency of screening for carpal tunnel syndrome in mucopolysaccharidosis patients and a review of carpal tunnel syndrome in patients seen in th…
  • Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America. [Journal Article]
    Mol Genet Metab Rep. 2020 Jun; 23:100572.Solano M, Fainboim A, … Lourenço CM
  • CONCLUSIONS: Recommendations provided by the experts may support physicians in dealing with the most common reasons for ERT interruptions in Latin America. Most importantly, recommendations for data collection at specific timepoints (at baseline, throughout the treatment and during the interruption period of ERT and after its resumption) can significantly improve the collection of real world evidence on the effects of ERT and its interruptions, supporting health care professionals and policy makers in the decision making regarding the provision of these therapies for MPS patients.
  • Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory. [Journal Article]
    Animals (Basel). 2020 Feb 28; 10(3)Provoost L, Siracusa C, … Casal M
  • Mucopolysaccharidosis I (MPS I) results from a deficiency of a lysosomal enzyme, alpha-L-iduronidase (IDUA). IDUA deficiency leads to glycosaminoglycan (GAG) accumulation resulting in cellular degeneration and multi-organ dysfunction. The primary aims of this pilot study were to determine the feasibility of cognitive testing MPS I affected dogs and to determine their non-social cognitive abilitie…
  • Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain. [Journal Article]
    Biomolecules. 2020 Feb 26; 10(3)De Pasquale V, Costanzo M, … Caterino M
  • Mucopolysaccharidosis IIIB (MPS IIIB) is an inherited metabolic disease due to deficiency of α-N-Acetylglucosaminidase (NAGLU) enzyme with subsequent storage of undegraded heparan sulfate (HS). The main clinical manifestations of the disease are profound intellectual disability and neurodegeneration. A label-free quantitative proteomic approach was applied to compare the proteome profile of brain…
  • Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center. [Journal Article]
    Genet Mol Biol. 2020; 43(1):e20180347.Mendoza-Ruvalcaba SDC, Brambila-Tapia AJL, … García-Ortiz JE
  • Mucopolysaccharidoses (MPS) are a group of genetic disorders, each resulting from the deficiency of one of the lysosomal enzymes that catabolizes mucopolysaccharides. For the accurate diagnosis of the disease, the quantification of a specific enzymatic activity is needed. In the present study, we analyzed seven MPS over several periods of time ranging from 2 to 5 years in a reference center in Me…
  • Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. [Review]
    Int J Mol Sci. 2020 Feb 23; 21(4)Sawamoto K, Álvarez González JV, … Tomatsu S
  • Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. The deficiency of this enzyme accumulates the specific glycosaminoglycans (GAG), keratan sulfate, and chondroitin-6-sulfate mainly in bone, cartilage, and its extracellular matrix. GAG accumulation in these…
  • Cathepsin B-associated Activation of Amyloidogenic Pathway in Murine Mucopolysaccharidosis Type I Brain Cortex. [Journal Article]
    Int J Mol Sci. 2020 Feb 20; 21(4)Viana GM, Gonzalez EA, … Nader HB
  • Mucopolysaccharidosis type I (MPS I) is caused by genetic deficiency of α-l-iduronidase and impairment of lysosomal catabolism of heparan sulfate and dermatan sulfate. In the brain, these substrates accumulate in the lysosomes of neurons and glial cells, leading to neuroinflammation and neurodegeneration. Their storage also affects lysosomal homeostasis-inducing activity of several lysosomal prot…
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