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1. Tracheobronchial Involvement of Mucopolysaccharidosis Type VI NSTL国家科技图书文献中心

Ufuk, Furkan -  《Pediatric Pulmonology》 - 2025,60(2) - e71007～e71007 - 共3页

摘要：A 20-year-old male with Mucopolysaccharidosis |  type VI (Maroteaux-Lamy syndrome) presented with |  severe mitral valve stenosis, obstructive sleep apnea | , and progressive respiratory compromise due to |  extensive tracheobronchial involvement. Chest CT revealed
关键词： computed tomography |  Mucopolysaccharidosis |  trachea
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2. A Drosophila model of mucopolysaccharidosis IIIB NSTL国家科技图书文献中心

Simkhada, Bibhu |  Nazario-Yepiz, Nesto...... -  《Genetics》 - 2025,229(3) - 共11页

摘要：Mucopolysaccharidosis type IIIB is a rare |  Drosophila model of mucopolysaccharidosis type IIIB can |  of therapies for mucopolysaccharidosis type IIIB |  lysosomal storage disorder caused by defects in alpha-N | -acetylglucosaminidase (NAGLU) and characterized by severe effects in
关键词： Sanfilippo syndrome |  rare genetic disease |  lysosomal storage disorder |  NAGLU |  sleep fragmentation |  transcriptomics |  RNA sequencing
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3. Long-term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II NSTL国家科技图书文献中心

Kwak, Ji Hee |  Choi, Yong Jun... -  《Journal of inherited metabolic disease》 - 2025,48(1) - e12779～e12779 - 共12页

摘要：Mucopolysaccharidosis type II (MPS II) is a |  rare multisystemic lysosomal disorder in which |  cardiac issues can lead to serious dysfunction and an |  increased risk of fatal cardiac failure. However, studies |  on major adverse cardiac event (MACE) outcomes in
关键词： cardiovascular diseases |  enzyme replacement therapy |  MACE |  mucopolysaccharidosis II |  risk factors
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4. Evaluating Patients With Mucopolysaccharidosis Type III: A Scoping Review on Diagnostic and Follow-Up Approaches NSTL国家科技图书文献中心

Romagnoli, Agustina ... |  Campos, Leticia Nune...... -  《Journal of applied research in intellectual disabilities》 - 2025,38(2) - e70024～e70024 - 共16页

摘要：Background Mucopolysaccharidosis type III (MPS |  III) is a rare lysosomal storage disease with |  systemic complications. This scoping review aimed to |  synthesise evidence regarding methods to diagnose and |  monitor MPS III. Methods We searched 10 databases for
关键词： clinical laboratory techniques |  early diagnosis |  follow-up studies |  lysosomal storage diseases |  mucopolysaccharidosis III |  rare diseases
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5. Molecular analysis of mucopolysaccharidosis type VI in Iranian patients; the influence of founder effect and consanguinity NSTL国家科技图书文献中心

Askarizadeh, Athena |  Kalantar, Seyed Mehd...... -  《Molecular biology reports》 - 2025,52(1) - 共10页

摘要：Background Mucopolysaccharidosis type VI (MPS |  VI), also known as Manteaux-Lamy syndrome, is an |  autosomal recessive lysosomal storage disorder caused by |  deficiency of the enzyme arylsulfatase B(ARSB). This |  syndrome is progressive and affects many tissues and
关键词： Mucopolysaccharidosis VI |  Maroteaux-lamy syndrome |  Arylsulfatase B |  Mutation |  Iranian patients |  Yazd province
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6. Development of a novel tool for individual treatment trials in mucopolysaccharidosis NSTL国家科技图书文献中心

Wiesinger, Anna-Mari... |  Bigger, Brian... -  《Journal of inherited metabolic disease》 - 2025,48(1) - e12816～e12816 - 共14页

摘要：Mucopolysaccharidosis (MPS) encompasses a |  group of genetic lysosomal storage disorders, linked |  to reduced life expectancy and a significant lack |  of effective treatment options. Immunomodulatory |  drugs could have the potential to be a relevant
关键词： decision analysis framework |  immunomodulation |  individual treatment trials |  mucopolysaccharidosis |  personalized medicine |  repurposing |  risk-benefit assessment |  risk–benefit assessment
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7. Tandem mass spectrometry-based assay for heparan-N-sulphatase in paediatric CSF: A potential pharmacodynamic biomarker for mucopolysaccharidosis type IIIA therapy NSTL国家科技图书文献中心

Speziale, Roberto |  Hocquemiller, Michae...... -  《Clinica chimica acta》 - 2025,565 - 119987～119987 - 共10页

摘要：Mucopolysaccharidosis type IIIA is a lysosomal |  degradation of heparan sulfate. In mucopolysaccharidosis |  mucopolysaccharidosis type III, with onset typically before the age of |  activity, with mucopolysaccharidosis type IIIA |  storage disorder caused by mutations in the gene coding
关键词： Cerebrospinal fluid |  Heparan sulfate |  High pressure liquid chromatography |  Mucopolysaccharidosis type IIIA |  SGSH activity assay |  Tandem mass spectrometry
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8. Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I NSTL国家科技图书文献中心

O'Grady, Lauren |  Zoltick, Emilie S.... -  《American journal of medical genetics,Part A》 - 2025,197A(4) - e63940～e63940 - 共6页

摘要：Mucopolysaccharidosis type I (MPS I), a |  lysosomal disorder caused by variants in IDUA, was added |  to the Recommended Uniform Screening Panel for |  newborn screening in 2016. Positive screening results |  for MPS I are commonly due to variants known as
关键词： biobanks |  IDUA |  inherited metabolic disease |  mucopolysaccharidosis type I |  newborn screening |  pseudodeficiency alleles
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9. Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I NSTL国家科技图书文献中心

Svatkova, Alena |  Pasternak, Ofer... -  《Journal of inherited metabolic disease》 - 2025,48(1) - e12830～e12830 - 共15页

摘要：Mucopolysaccharidosis type I (MPS I) is an |  inherited lysosomal storage disorder leading to |  deleterious brain effects. While animal models suggested |  that MPS I severely affects white matter (WM), whole | -brain diffusion tensor imaging (DTI) analysis was not
关键词： attenuated MPS |  diffusion tensor imaging (DTI) |  free-water |  Hurler syndrome |  Mucopolysaccharidosis type I |  perivascular Virchow Robin spaces |  free‐water
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10. Disturbances in mitochondrial bioenergetics and control quality and unbalanced redox homeostasis in the liver of a mouse model of mucopolysaccharidosis type II NSTL国家科技图书文献中心

Pinheiro, Camila Vie... |  Ribeiro, Rafael Teix...... -  《Molecular and Cellular Biochemistry》 - 2025,480(1) - 411～424 - 共14页

摘要：Mucopolysaccharidosis type II (MPS II; Hunter |  syndrome) is a lysosomal storage disease caused by |  mutations in the gene encoding the enzyme iduronate 2 | -sulfatase (IDS) and biochemically characterized by the |  accumulation of glycosaminoglycans (GAGs) in different
关键词： Mucopolysaccharidosis type II |  Mitochondrial bioenergetics |  Mitochondrial dynamics |  Redox homeostasis |  Liver |  MPS II mice
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