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Quoted phrase not found in phrase index: "Mucopolysaccharidosis, MPS-III-C"
Page 1
Epidemiology of mucopolysaccharidoses.
Khan SA, Peracha H, Ballhausen D, Wiesbauer A, Rohrbach M, Gautschi M, Mason RW, Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu S. Khan SA, et al. Mol Genet Metab. 2017 Jul;121(3):227-240. doi: 10.1016/j.ymgme.2017.05.016. Epub 2017 May 26. Mol Genet Metab. 2017. PMID: 28595941 Free PMC article.
The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, respectively. MPS VI and VII were more rare and accounted for 1.7 and 1.3%, respectively. ...Birth prevalence of MPS II in Switzerland and oth …
The highest birth prevalence was 0.84 for MPS II, accounting for 55% of all MPS. MPS I, III, and IV accounted for 15, 16, and 10%, re …
Glycosaminoglycans and mucopolysaccharidosis type III.
Jakobkiewicz-Banecka J, Gabig-Ciminska M, Kloska A, Malinowska M, Piotrowska E, Banecka-Majkutewicz Z, Banecki B, Wegrzyn A, Wegrzyn G. Jakobkiewicz-Banecka J, et al. Front Biosci (Landmark Ed). 2016 Jun 1;21(7):1393-409. doi: 10.2741/4463. Front Biosci (Landmark Ed). 2016. PMID: 27100513 Free article. Review.
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. ...Central nervous system is predominantly aff …
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfa …
Enzyme replacement therapy: efficacy and limitations.
Concolino D, Deodato F, Parini R. Concolino D, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):120. doi: 10.1186/s13052-018-0562-1. Ital J Pediatr. 2018. PMID: 30442189 Free PMC article. Review.
Enzyme replacement therapy (ERT) is available for mucopolysaccharidosis (MPS) I, MPS II, MPS VI, and MPS IVA. The efficacy of ERT has been evaluated in clinical trials and in many post-marketing studies with a long-term follow-up for MPS I, MPS II, and MPS VI. ...The ratio …
Enzyme replacement therapy (ERT) is available for mucopolysaccharidosis (MPS) I, MPS II, MPS VI, and MPS IVA. The efficacy of ERT has …
Mucopolysaccharidoses and the eye.
Ashworth JL, Biswas S, Wraith E, Lloyd IC. Ashworth JL, et al. Surv Ophthalmol. 2006 Jan-Feb;51(1):1-17. doi: 10.1016/j.survophthal.2005.11.007. Surv Ophthalmol. 2006. PMID: 16414358 Review.
They have been subdivided according to enzyme defect and systemic manifestations and include MPS IH (Hurler), MPS IS (Scheie), MPS IH/S (Hurler/Sheie), MPS II (Hunter), MPS III (Sanfilippo), MPS IV (Morquio), MPS VI (Maroteaux-Lamy), MPS VII (Sly) and MPS IX (Natowicz). .. …
They have been subdivided according to enzyme defect and systemic manifestations and include MPS IH (Hurler), MPS IS (Scheie), MPS IH/S (Hur …
Sanfilippo syndrome: a mini-review.
Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA. Valstar MJ, et al. J Inherit Metab Dis. 2008 Apr;31(2):240-52. doi: 10.1007/s10545-008-0838-5. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392742 Review.
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive disorder, caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of the glycosaminoglycan heparan sulfate. ...Enzymatic assays in leukocyt …
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive disorder, caused by a deficienc …
Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients.
Kong W, Meng Y, Zou L, Yang G, Wang J, Shi X. Kong W, et al. J Pediatr Endocrinol Metab. 2020 May 24;33(6):793-802. doi: 10.1515/jpem-2019-0505. J Pediatr Endocrinol Metab. 2020. PMID: 32447333
Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients wit …
Objectives Sanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, w …
Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood-onset dementia.
Winner LK, Rogers ML, Snel MF, Hemsley KM. Winner LK, et al. J Neurochem. 2023 Aug;166(3):481-496. doi: 10.1111/jnc.15891. Epub 2023 Jun 26. J Neurochem. 2023. PMID: 37357981 Review.
Sanfilippo syndrome (MPS III) is an autosomal recessive inherited disorder causing dementia in children, following an essentially normal early developmental period. ...Furthermore, given the prominent role of neuroinflammation in symptom expression, glial fibrillary acidic …
Sanfilippo syndrome (MPS III) is an autosomal recessive inherited disorder causing dementia in children, following an essentially nor …
Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations.
Parini R, Deodato F. Parini R, et al. Int J Mol Sci. 2020 Apr 23;21(8):2975. doi: 10.3390/ijms21082975. Int J Mol Sci. 2020. PMID: 32340185 Free PMC article. Review.
The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses (MPSs) I, II, IVA, VI and VII, gained in phase III clinical trials and in observational post-approv …
The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of intravenous enzyme replacement therapy (ERT) av …
Evaluation of cardiac findings in mucopolysaccharidosis.
Dehghan B, Rostampour N, Sedighi M, Saryazdi MH, Rizi MJ, Mostofizadeh N, Hashemipour M, Khoshhali M. Dehghan B, et al. Int J Cardiovasc Imaging. 2024 Jan;40(1):73-78. doi: 10.1007/s10554-023-02983-y. Epub 2023 Oct 17. Int J Cardiovasc Imaging. 2024. PMID: 37845409
The total mean age of patients was 9.58 5.11 years and 71.4% were male. Type IV (40%) and type III (31.4%) were the most frequent MPS. Although LVEF did not differ notably among MPS types, GLS was significantly different (p = 0.029). Mitral regurgitation was observed remar …
The total mean age of patients was 9.58 5.11 years and 71.4% were male. Type IV (40%) and type III (31.4%) were the most frequent MPS …
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape.
Bodamer OA, Giugliani R, Wood T. Bodamer OA, et al. Mol Genet Metab. 2014 Sep-Oct;113(1-2):34-41. doi: 10.1016/j.ymgme.2014.07.013. Epub 2014 Jul 16. Mol Genet Metab. 2014. PMID: 25127543 Review.
Mucopolysaccharidosis type III (MPS III) is characterized by progressive neurological deterioration, behavioral abnormalities, a relatively mild somatic phenotype, and early mortality. ...Here we review current practices in the laboratory diagnosis of MPS …
Mucopolysaccharidosis type III (MPS III) is characterized by progressive neurological deterioration, behavioral abnorma …
139 results