Mucopolysaccharidosis type VI
![Successful Management of Difficult Infusion-Associated Reactions in a Young Patient With Mucopolysaccharidosis Type VI Receiving Recombinant Human Arylsulfatase B (Galsulfase [Naglazyme])](data:image/gif;base64,R0lGODlhAQABAIAAAP///wAAACH5BAEAAAAALAAAAAABAAEAAAICRAEAOw==)
Successful Management of Difficult Infusion-Associated Reactions in a Young Patient With Mucopolysaccharidosis Type VI Receiving Recombinant Human Arylsulfatase B (Galsulfase [Naglazyme])
... with mucopolysaccharidosis type VI received enzyme replacement therapy with recombinant human arylsulfatase B (galsulfase [Naglazyme, BioMarin Pharmaceutical Inc, Novato, CA]) shortly after approval ...
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Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase
... Mucopolysaccharidosis type VI (Maroteaux-Lamy syn- drome; MPS VI; MIM 253200) is a lysosomal storage dis- order in which the deficiency of N-acetylgalactosamine 4-sulfatase leads to the ...
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Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes
... Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N -acetylgalac- tosamine-4-sulfatase ...MPS VI model used to demonstrate efficacy of ...
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Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI
... in mucopolysaccharidosis type VI cats from birth, at the clinical, biochemical, and histopathologi- cal ...midterm mucopolysaccharidosis type VI fe- tus and increased rapidly in ...
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Arylsulfatase B activities and glycosaminoglycan levels in retrovirally transduced mucopolysaccharidosis type VI cells Prospects for gene therapy
... Mucopolysacchariodosis type VI (MPS VI) is the lysosomal storage disorder caused by the deficient activity of arylsulfatase B (ASB; N-acetylgalactosamine 4-sulfatase) and the subsequent accumulation ...
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Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
... Background: Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) comprises a group of rare, lysosomal storage diseases caused by the deficiency of one of four enzymes involved in the degradation of ...
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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 ...
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An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III
... Mucopolysaccharidosis type-III (MPS III (Sanfilippo syndrome)) is a recessively inherited lysosomal storage disorder and is the most prevalent of the seven muco- polysaccharide (MPS) disorders, occurring ...
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CLINICAL FINDINGS, DIAGNOSIS AND TREATMENT STRATEGIES OF MUCOPOLYSACCHARIDOSIS TYPE I
... deficiency, including 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 ...
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Murine mucopolysaccharidosis type VII Characterization of a mouse with beta glucuronidase deficiency
... activity. This biochemical defect causes a murine lysosomal storage disease that has many interesting similarities to human mucopolysaccharidosis type VII (MPS VII; Sly syndrome; beta-glucuronidase ...
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Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal
... MPS VI fibroblasts (28, 34) and in both studies the authors suggest that the increase of Beclin-1 occurs due to the impaired degradation of protein aggregates, to stimulate cellular ...
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Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
... Patients with the classical severe phenotype of MPS III generally reached a maximal developmental age of approximately 3-4 years (Figure 5), while patients with a more attenuated phenoty[r] ...
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Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis
... MPS VI, in which full collapse of the trachea usually occurs by 9 months of age, two forms of anti-inflammatory treatment resulted in an increased tracheal lumen and a thicker tracheal wall compared to untreated ...
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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) activity. MPS I is classified into three clinical phenotypes called Hurler, Scheie, ...
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Mucopolysaccharidosis VI
... Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan ...
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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- gressive ...
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An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
... As NBS for MPS I may be implemented in several countries within the near future, there is an urgent need for a tool which allows reliable prediction of the pheno- type within the first months of life. Here we ...
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Systemic and Central Nervous System Correction of Lysosomal Storage in Mucopolysaccharidosis Type VII Mice
... An enzyme-based histochemical stain (1, 13) was used to detect b-glucuronidase in cryosections of liver and kidney 16 weeks after Adbgluc injection (Fig. 2). The intensity of staining and extent of positive cells ...
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Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future
... and mucopolysaccharidosis type I [MPS I]) and comprised a Phase I/II study followed by a larger pivotal Phase II/III study designed to meet authoriza- tion requirements (Figure 2; Table ...
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ANIMAL MODEL STUDIES OF ALLELISM: CHARACTERIZATION OF ARYLSULFATASE B MUTATIONS IN HOMOALLELIC AND HETEROALLELIC (GENETIC COMPOUND) HOMOZYGOTES WITH FELINE MUCOPOLYSACCHARIDOSIS VI
... T h e physicokinetic and immunological properties of the partially purified residual hepatic arylsulfatase B isozymes from the affected homoallelic and heteroallelic [r] ...
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