• Journal of mucopolysaccharidosis and rare diseases
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• v.1 no.1
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• pp.1-1
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• 2015

• Journal of the korean academy of Pediatric Dentistry
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• v.34 no.1
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• pp.150-155
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• 2007

Mucopolysaccharidosis (MPS) is a disorder of storage in which there is excessive accumulation of glycosaminoglycans (GAGs) from lysosomal enzyme defect. Lysosomal accumulation of GAGs eventually results in cell, tissue and organ dysfunction. This patient may manifest mental retardation and physical disorders. This clinical report presents a girl with MPS having severe gingival hyperplasia. Gingivectomy was performed under general anesthesia. The pediatric dentist must be aware of oral manifestations present in the MPS. The approach to dental management will require teamwork between the dentist and the patient's physician.

• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.1
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• pp.1-8
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• 2017

Mucopolysaccharidosis (MPS) type III, or Sanfilippo syndrome is a rare autosomal recessive lysosomal storage disorder. It is caused by a deficiency of one of four enzymes involved in the degradation of the glycosaminoglycan (GAG) heparan sulfate. The resultant cellular accumulation of heparan sulfate causes various clinical manifestations. MPS III is divided into four subtypes depending on the deficient enzyme: MPS IIIA, MPS IIIB, MPS IIIC and MPS IIID. All the subtypes show similar clinical features and are characterized by progressive degeneration of the central nervous system (CNS). Main purpose of the treatment for MPS III is to prevent neurologic deterioration. However, conventional enzyme replacement therapy has a limitation due to inability to cross the blood-brain barrier. Several experimental treatment options for MPS III are being developed.

• Journal of mucopolysaccharidosis and rare diseases
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• v.4 no.2
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• pp.37-41
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• 2018

Mucopolysaccharidosis III (MPS III, Sanfilippo syndrome) is a rare autosomal recessive disease caused by a deficiency of one of four enzymes involved in the degradation of glycosaminoglycan (GAG). The resultant cellular accumulation of GAG causes various clinical manifestations. MPS III is divided into four subtypes depending on the deficient enzyme. All the subtypes show similar clinical features and are characterized by progressive degeneration of the central nervous system. A number of genetic and biochemical diagnostic methods have been developed. However, there is no effective therapy available for any form of MPS III, with treatment currently limited to clinical management of neurological symptoms. Main purpose of the treatment for MPS III is to prevent neurologic deterioration. Because conventional intravenous enzyme replacement therapy (ERT) has a limitation due to inability to cross the blood-brain barrier, several innovative therapeutic approaches for MPS III are being developed. This review covers the currently developing new therapeutic options for MPS III including high dose ERT, substrate reduction therapy, intrathecal or intraventricular ERT, fusion protein delivery using bioengineering technology, and gene therapy.

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.22-28
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• 2021

Mucopolysaccharidosis type III (MPS III) or Sanfilippo disease is an orphan-inherited lysosomal storage disease. It is one of the most common MPS subtypes. The classical presentation is an infantile-onset neurodegenerative disease characterized by intellectual regression, behavioral and sleep disturbances, loss of ambulation, and early death. Unlike other MPS, no disease-modifying therapy has been approved. Here, we review the curative therapy developed for MPS III, from historically ineffective hematopoietic stem cell transplantation and substrate reduction therapy to the promising enzyme replacement therapy or adeno-associated/lentiviral vector-mediated gene therapy. Preclinical studies are presented with recent translational first-in-man trials. We also present experimental research with preclinical mRNA and gene-editing strategies. Lessons from animal studies and clinical trials have highlighted the importance of early therapy before extensive neuronal loss. Disease-modifying therapy for MPS III will likely mandate the development of new early diagnosis strategies.

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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• pp.12-16
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• 2021

Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulfatase, leading to the accumulation of glycosaminoglycans (GAGs), which affects multiple organs and systems. Current treatments for MPS II include enzyme replacement therapy (ERT) and hematopoietic cell transplantation (HCT) to reduce the accumulation of GAGs. HCT has the potential advantage that donor-derived enzyme-competent cells can provide a continuous secreting source of the enzyme. However, HCT as a treatment for MPS II remains controversial because its effectiveness is unclear, particularly in terms of neurological symptoms. To date, several clinical experiences with HCT in MPS II have been reported. In this paper, we review post-HCT outcomes in the previously published literature and discuss the effects of HCT on each of the clinical signs and symptoms of MPS II.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.23-26
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• 2016

Mucopolysaccharidosis (MPS) I is a rare, progressive and multisystemic disease with insidious initial signs and symptoms, and making an early diagnosis can be a challenge for the first-line general medical practitioner. We report a 6-month-old girl who was brought to our well baby clinic for regular immunization with the manifestations of lumbar gibbus, hirsutism, large Mongolian spots over back and buttock, and mild bilateral legs spasticity noticed by the general pediatrician, and then newly diagnosed with MPS I after referral to the geneticist in time. Her surgical history included inguinal hernia repair at 1 month old, $CO_2$ laser supraglottoplasty for laryngomalacia and tracheostomy due to chronic respiratory failure with ventilator dependence at 2 months old. Understanding and identification of the early signs and symptoms of this disease have the potential to early diagnosis and timely appropriate treatment, which could contribute to a better clinical outcome.

• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.2
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• pp.37-40
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• 2017

Mucopolysaccharidosis (MPS) is caused by accumulation of the glycosaminoglycans in all tissues due to decreased activity of the lysosomal enzyme. Patients exhibit multisystemic signs and symptoms in a chronic and progressive manner, especially with changes in the skeleton, cardiopulmonary system, central nervous system, cornea, skin, liver, and spleen. In the past, treatment of MPS was limited to enzyme replacement therapy (ERT). The outcome for affected patients improved with the introduction of new technologies as hematopoietic stem cell transplantation, relegated to specific situations after ERT became available. Intrathecal ERT may be considered in situations of high neurosurgical risk but still it is experimental in humans. New insights on the pathophysiology of MPS disorders are leading to alternative therapeutic approaches, as gene therapy, inflammatory response modulators and substrate reduction therapy. In this paper, we will highlight the recent novel treatment and clinical trials for MPS and discuss with the goal of fostering an understanding of this field.

• Child Health Nursing Research
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• v.17 no.1
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• pp.58-67
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• 2011

Purpose: This study was done to explore the meaning of joys and sorrows in mothers of children with Mucopolysaccharidosis (MPS). Methods: The participants were 9 mothers who each had a child with MPS. Data were gathered using in-depth interviews. The interviews were recorded and transcribed verbatim. Data were analyzed using Colaizzi method. Results: The significant results from analyzing the interviews can be grouped into 12 concept descriptions, and 5 theme clusters. The essential theme clusters for the experience of the mothers were 'hopelessness about this rare disease', 'guilt because of the disease being hereditary, 'endless courses of treatment', 'wounds in the relationship', and 'relative composure of mind'. Conclusion: The finding of this study offer profound information on joys and sorrows experienced by mothers of children with MPS and provide basic data for developing nursing intervention strategies for the mothers of children with rare diseases.

• Proceedings of the PSK Conference
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• 2002.10a
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• pp.431.2-432
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• 2002

Mucopolysaccharidosis (MPS) is a genetic disorder with deficiency of Iysomal enzymes needed for the degradation of glycosaminoglycans(GAGs). This storage disease is characterized by intra-lysosomal accumulation of GAGs. progressive mental and physical deterioration. multi-organ failure and premature death. Quality of life (QOL) is very low in MPS patients. The MOS 36-ltem Short Form Health Survey (SF-36) was designed to measure the eight (8) dimensions of health in clinical and general population settings. (omitted)