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Hearing loss in Hunter's syndrome--mucopolysaccharidosis II.

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Hunter's syndrome [mucopolysaccharidosis II (MPS II)] is a genetic, metabolic disease of excessive mucopolysaccharide storage leading to mental and skeletal abnormalities, distinctive facial features, and increased incidence of hearing loss. However, the hearing impairment in MPS II has not been

Hearing loss in patients with mucopolysaccharidosis II: data from HOS - the Hunter Outcome Survey.

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BACKGROUND Subjectively reported hearing loss is a common feature of mucopolysaccharidosis II (MPS II, Hunter syndrome). This study provides an epidemiological description of hearing loss and other otolaryngological manifestations reported by patients registered in the Hunter Outcome Survey (HOS),

Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II.

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Mucopolysaccharidosis (MPS) II is an X-linked metabolic disorder caused by dysfunction of iduronate-2-sulfatase (I2S). This abnormality causes the progressive accumulation of incompletely degraded glycosaminoglycans (GAGs) in the lysosomes. The auditory characteristics of MPS II in mouse models have

Pathological and biochemical study in the adenoid of mucopolysaccharidosis II.

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In the patients with mucopolysaccharidosis II (MPS II, Hunter's syndrome), conductive and sensorineural hearing deficits are frequently observed. Two patients with MPS II underwent adenoidectomy and an ear douche, and their conductive hearing loss recovered after the surgery. Pathological

Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome.

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Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.

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Mucopolysaccharidosis type II (MPSII) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene (IDS, Xq28). MPSII is characterized by skeletal deformities, hearing loss, airway obstruction, hepatosplenomegaly, cardiac valvular disease, and progressive

Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.

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Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross

Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation.

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OBJECTIVE Our study aim is the evaluation of long-term effects of hematopoietic stem cell transplantation on Italian patients with severe Hunter syndrome. METHODS Four boys, suffering from Hunter syndrome, severe phenotype, received hematopoietic stem cell transplantation between 2 years 6 months

Mucopolysaccharidosis type II, Hunter's syndrome.

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Hunter syndrome is caused by deficiency of the lysososmal enzyme iduronate-2-sulphatase that cleaves O-linked sulphate moieties from dermatan sulphate and heparan sulphate and leads to accumulation of GAGs. The disease is a X-linked condition affecting males and rarely females, clinically divided

Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.

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Hunter disease (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disease caused by deficiency of iduronate-2-sulfatase. Accumulation of chondroitin sulfate B and heparan sulfate in various tissues is the biochemical consequence of MPS II. Children with Hunter disease are

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.

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Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The clinical manifestations of this disease are severe skeletal deformities, airway obstruction, cardiomyopathy, and neurologic

A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.

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Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder. A novel gross deletion in the iduronate-2-sulfatase (IDS) gene was found in a 6-year-old boy with Hunter syndrome. The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly,

MPS II: adaptive behavior of patients and impact on the family system.

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Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a chronic and progressive X-linked lysosomal disease that mainly affects males. It occurs in 1 in every 65,000 to 1 in 132,000 births. There are two distinct forms of the disease based on age of onset and clinical course: mild

A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II.

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OBJECTIVE The behavioral, adaptive and quality of life characteristics of attenuated mucopolysaccharidosis type II (MPS II) have not been well studied. Understanding changes over time in the attenuated phenotype may assist in helping achieve better outcomes in long-term function. This longitudinal

Cochlear Implantation via the Transmeatal Approach in an Adolescent with Hunter Syndrome-Type II Mucopolysaccharidosis.

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Type II mucopolysaccharidosis (MPS II) commonly known as Hunter syndrome, is a rare X-linked lysosomal storage disorder caused by iduronate-2-sulfatase deficiency, which in turn causes otorhinolaryngological manifestations, including sensorineural hearing loss (SNHL). Previously, the median survival

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