Mucopolysaccharidosis type I
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure
... Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disorder caused by deficiency of the enzyme alpha-L-iduronidase (IDUA) which is involved in the degradation of the ...
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Factors influencing transfection efficiency of pIDUA/nanoemulsion complexes in a mucopolysaccharidosis type I murine model
... Abstract: Mucopolysaccharidosis type I (MPS I) is an autosomal disease caused by alpha- l -iduronidase (IDUA) ...MPS I when a dose of 60 µg was administered and IDUA activity was ...
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Fatal Coronary Artery Disease in an Infant With Severe Mucopolysaccharidosis Type I
... charidosis type I. A chest radiograph revealed a markedly enlarged heart, and echocardiography revealed hypertrophic cardiomyopathy. While hematopoietic stem cell transplantation was being planned, pro- ...
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Intrathecal Adeno-Associated Virus Vector Delivery for Mucopolysaccharidosis Type I
... of mucopolysaccharidosis type I (MPS I), a progressive neuropathic lysosomal storage disease caused by deficient activity of the enzyme α-l-iduronidase ...MPS I dogs treated ...
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An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
... Mucopolysaccharidosis type I (MPS I, OMIM 252800) is a progressive multisystem lysosomal storage disease (LSD) caused by a deficiency of the lysosomal hydrolase α-L-iduronidase (IDUA, [Genbank ...
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A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan
... Background: Mucopolysaccharidosis type I (MPS I) is a genetic disease caused by the deficiency of α -L-iduronidase (IDUA) ...MPS I is classified into three clinical phenotypes called ...
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Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease
... Mucopolysaccharidosis type I (MPS I), also called Hurler syndrome, is an autosomal recessive disorder character- ized by inability to degrade glycosaminoglycan (GAG) owing to a deficiency of ...
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Original Article Analysis of male reproductive parameters in a murine model of mucopolysaccharidosis type I (MPS I)
... Mucopolysaccharidosis type I (MPS I) is a lyso- somal storage disorder (LSD) characterised by the continuous deposition of glycosaminogly- cans (GAGs) as a consequence of deficiency in ...
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Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients
... Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of the enzyme of a -L-iduronidase (IDUA, EC ...MPS I ranges ...
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Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights
... MPS I, yet was not diagnosed until nearly 11 years after presenting to the pediatric endocrinologist with short ...MPS I. A path to MPS I diagnosis when indicating signs are present is shown in ...
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Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation
... MPS I-H and can lead to significant disability ...MPS I patients have a high risk of developing a carpal tunnel syndrome (CTS) due to bone dysplasia as well as thickening of syno- via and ligaments [16 – ...
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Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms
... We analyzed the IDUA gene of 12 MPS I patients from Tunisia. The affected probands in the eight families proved the presence of eight cases of Hurler phenotype, two cases of Huler / Scheie phenotype and one case ...
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Open issues in Mucopolysaccharidosis type I-Hurler
... MPS I-H patients after HSCT, revealed that performing HSCT at a very early age (<12 months) in patients with normal or mildly im- paired cognitive development at baseline offers the best chance for a long-term, ...
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Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
... This European consensus project was organized to develop recommendations for decision making on the two currently available disease-modifying treatment options for MPS I patients. This is important, because it ...
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An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States
... MPS I are chronic and debilitating, it is expected that families with MPS I children would experience significant economic, social, and humanistic ...
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Mucopolysaccharidosis Type I in Children, a Forgotten Diagnosis Responsible for Undiagnosed Musculoskeletal Complaints: Report of Two Cases
... In this study, we used urine GAGs for screening MPS. Urine GAG tested by combination of semiquantitative Berry spot and 1,9-Dimethyl-Methylene Blue that have been used for the quantification of sulfated glycosamino- ...
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CLINICAL FINDINGS, DIAGNOSIS AND TREATMENT STRATEGIES OF MUCOPOLYSACCHARIDOSIS TYPE I
... MPS I, cannot be diagnosed by either qualitative or quantitative method; however, the likely presence of an MPS disorder is indicated by an abnormality that can be detected by either or both ...The type of ...
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Phenotype prediction for mucopolysaccharidosis type I by in silico analysis
... Results: To establish a genotype/phenotype correlation of MPS I disease, a combination of bioinformatics tools including SIFT, PolyPhen, I-Mutant, PROVEAN, PANTHER, SNPs&GO and PHD-SNP are utilized. ...
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Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase
... The effect of 8 mutations was investigated by site di- rected mutagenesis and transient expression studies. Introduction of the non-sense mutation p.R327X in the wild type ARSB cDNA construct led to total absence ...
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Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis
... Respiratory pathology in MPS is thought to arise from the accumulation of GAGs at different levels of the airway. Histopathological studies in MPS II have shown GAG accumulation in adenoidal and supraglot- tic tissues ...
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