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Academic Journal

Capsular and retinaculum thickening in type II mucopolysaccharidosis: a novel MRI finding.

  • Authors : Sato VN; Department of Radiology, Escola Paulista de Medicina/Universidade Federal de São Paulo (UNIFESP), Rua Napoleão de Barros, 800 - Vila Clementino, São Paulo, SP, 04024-002, Brazil. .; Division of Musculoskeletal Radiology, Diagnóstico das Américas (DASA), São Paulo, SP, Brazil. .

Subjects: Mucopolysaccharidoses*/Mucopolysaccharidoses*/Mucopolysaccharidoses*/diagnostic imaging ; Mucopolysaccharidoses*/Mucopolysaccharidoses*/Mucopolysaccharidoses*/complications ; Joint Diseases*/Joint Diseases*/Joint Diseases*/etiology

  • Source: Skeletal radiology [Skeletal Radiol] 2024 Jun; Vol. 53 (6), pp. 1211-1217. Date of Electronic Publication: 2023 Nov 06.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7701953 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

  • Authors : Zhao H; Department of Rheumatology and Immunology, Xiangya Hospital, Central South University, Changsha, China.; Provincial Clinical Research Center for Rheumatic and Immunologic Diseases, Xiangya Hospital, Central South University, Changsha, China.

Subjects: Mucopolysaccharidoses*/Mucopolysaccharidoses*/Mucopolysaccharidoses*/genetics ; Mucopolysaccharidosis III*/Mucopolysaccharidosis III*/Mucopolysaccharidosis III*/genetics; Humans

  • Source: Journal of cellular and molecular medicine [J Cell Mol Med] 2024 Apr; Vol. 28 (8), pp. e18307.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101083777 Publication Model: Print Cited Medium: Internet ISSN: 1582-4934

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Academic Journal

Risk and clinical characteristics of spinal cord compression across different mucopolysaccharidosis types: A retrospective cohort study.

  • Authors : Kim I; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.; Sung J

Subjects: Spinal Cord Compression*/Spinal Cord Compression*/Spinal Cord Compression*/etiology ; Mucopolysaccharidoses*/Mucopolysaccharidoses*/Mucopolysaccharidoses*/complications; Humans

  • Source: Medicine [Medicine (Baltimore)] 2024 Oct 18; Vol. 103 (42), pp. e40113.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Tandem mass spectrometric assay of N-acetylglucosamine-6-sulfatase for multiplex analysis of mucopolysaccharidosis-IIID in dried blood spots.

  • Authors : Liu Y; Department of Chemistry, University of Washington, Seattle, WA 98195, USA.; Gelb MH

Subjects: Mucopolysaccharidoses* ; Mucopolysaccharidosis VI*; Infant, Newborn

  • Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jan; Vol. 141 (1), pp. 108105. Date of Electronic Publication: 2023 Nov 30.Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Glycosaminoglycan-induced proinflammatory cytokine levels as disease marker in mucopolysaccharidosis.

  • Authors : Çopur O; Ege University, Institute of Health Sciences, Department of Medical Biochemistry, Izmır, Turkiye; Ege University, Faculty of Medicine, Department of Medical Biochemistry, Izmır, Turkiye.

Subjects: Mucopolysaccharidoses*/Mucopolysaccharidoses*/Mucopolysaccharidoses*/metabolism ; Mucopolysaccharidosis VI*; Animals

  • Source: Cytokine [Cytokine] 2024 Jan; Vol. 173, pp. 156410. Date of Electronic Publication: 2023 Nov 03.Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 9005353 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Tracheostomy in children with mucopolysaccharidosis: A systematic review.

  • Authors : Galluzzi F; Department of Otorhinolaryngology, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Garavello W

Subjects: Tracheostomy*/Tracheostomy*/Tracheostomy*/adverse effects ; Mucopolysaccharidoses*/Mucopolysaccharidoses*/Mucopolysaccharidoses*/complications ; Mucopolysaccharidoses*/Mucopolysaccharidoses*/Mucopolysaccharidoses*/surgery

  • Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2024 Dec; Vol. 187, pp. 112167. Date of Electronic Publication: 2024 Nov 19.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.

Subjects: Mucopolysaccharidoses*/Mucopolysaccharidoses*/Mucopolysaccharidoses*/therapy; Humans ; Child

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 23; Vol. 19 (1), pp. 393. Date of Electronic Publication: 2024 Oct 23.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Mucopolysaccharidosis-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease?

  • Authors : Cyske Z; Department of Molecular Biology, Faculty of Biology, University of Gdansk, Wita Stwosza 59, 80-308 Gdansk, Poland.; Gaffke L

Subjects: Mucopolysaccharidoses*/Mucopolysaccharidoses*/Mucopolysaccharidoses*/genetics ; Mucopolysaccharidoses*/Mucopolysaccharidoses*/Mucopolysaccharidoses*/metabolism; Humans

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Sep 04; Vol. 25 (17). Date of Electronic Publication: 2024 Sep 04.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Health service utilization, economic burden and quality of life of patients with mucopolysaccharidosis in China.

  • Authors : Kang Q; Shanghai Health Development Research Center (Shanghai Medical Information Research Center), Shanghai, China.; Fang Y

Subjects: Quality of Life* ; Mucopolysaccharidoses*/Mucopolysaccharidoses*/Mucopolysaccharidoses*/economics ; Cost of Illness*

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 06; Vol. 19 (1), pp. 324. Date of Electronic Publication: 2024 Sep 06.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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Academic Journal

Changes in Corneal Clouding Over Time in Patients With Mucopolysaccharidosis.

  • Authors : McGrath O; Manchester Royal Eye Hospital, Manchester, United Kingdom; and.

Subjects: Mucopolysaccharidoses*/Mucopolysaccharidoses*/Mucopolysaccharidoses*/complications ; Mucopolysaccharidoses*/Mucopolysaccharidoses*/Mucopolysaccharidoses*/therapy ; Corneal Opacity*/Corneal Opacity*/Corneal Opacity*/diagnosis

  • Source: Cornea [Cornea] 2023 Aug 01; Vol. 42 (8), pp. 992-999. Date of Electronic Publication: 2023 Mar 01.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8216186 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  50,804 results for ""MUCOPOLYSACCHARIDOSIS""