mucopolysaccharidosis iv/hearing loss

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Assessment of hearing loss by pure-tone audiometry in patients with mucopolysaccharidoses.

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Identifikohuni Regjistrohu

BACKGROUND Patients with mucopolysaccharidoses (MPS) often have hearing loss. However, the characterization of hearing loss by pure-tone audiometry (PTA) in this rare disease population and its relationship to age and treatment is limited. METHODS PTA was performed in 39 patients with MPS (29 males

N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples.

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Identifikohuni Regjistrohu

BACKGROUND Mucopolysaccharidosis type IVA (MPS IVA; Morquio syndrome) is a lysosomal storage disorder caused by a deficiency in the activity of the lysosomal hydrolase N-acetylgalactosamine-6-sulfatase (GALNS). MPS IVA patients can present with severe myelopathy, hearing loss, heart valve

Hearing patterns in Morquio's syndrome (mucopolysaccharidosis IV).

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Identifikohuni Regjistrohu

The hearing status of 18 patients with Morquio's syndrome (mucopolysaccharidosis IV) was evaluated. All three patients under age 8 years had a conductive hearing loss. Fourteen of 15 patients 8 years of age and older had a mixed or sensorineural hearing loss; one had normal hearing. Six patients

Neurophysiology of hearing in patients with mucopolysaccharidosis type IV.

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Identifikohuni Regjistrohu

Hearing impairment is a common problem in patients with mucopolysaccharidosis IV (MPS IV) throughout their life. Many of the adult patients with MPS IV exhibit permanent or severe hearing loss. However, there has been no systematic review of detailed audiological test results in MPS IV. Fourteen

Cataracts in Morquio syndrome (mucopolysaccharidosis IV A).

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Three siblings with Morquio syndrome (mucopolysaccharidosis IV A) are described. In addition to the characteristic dwarfism with skeletal deformities, odontoid anomalies, hearing loss and corneal clouding, the authors found almost identical lens opacities in all three patients. Lenticular opacities

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

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Identifikohuni Regjistrohu

Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition.

Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

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Identifikohuni Regjistrohu

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans. Hearing loss is a common clinical presentation in MPS. This paper reviews the literature on hearing loss for each of the seven

The natural histories of bone dysplasias in adults--vignettes, fables and just-so stories.

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Identifikohuni Regjistrohu

The bone dysplasias are a heterogeneous group of disorders arising from intrinsic abnormality of bone and cartilage growth and function. All are genetic. Most result in extreme small stature (dwarfism). Historically, emphasis was primarily on diagnostic identification of specific disorders in

Analysis of endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA: A case report.

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Identifikohuni Regjistrohu

BACKGROUND Mucopolysaccharidosis IVA (Morquio A) is a catabolic mucopolysaccharide disorder caused by galactose-6-sulfate sulfatase deficiency. It is an autosomal recessive inherited disease. Previous reports on clinical characteristics of Morquio A mainly focused on growth retardation, skeletal

Immunohistochemical localization of keratan sulfate in the chinchilla inner ear.

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Identifikohuni Regjistrohu

Keratan sulfate (KS) was immunolocalized in the chinchilla cochlea and vestibular system using indirect immunohistochemistry and a monoclonal antibody (clone 5-D-4) directed against a proteoglycan core antigen. As a positive control, anti-KS Mab reactivity was found in the pericellular matrix and

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.

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Identifikohuni Regjistrohu

BACKGROUND

Morquio A syndrome, mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine-6-sulfatase (GalNac6S), due to alterations in the GALNS gene. This disorder results in marked abnormalities in

Audiometric evaluation in individuals with mucopolysaccharidosis.

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Identifikohuni Regjistrohu

To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis.Fifty-three mucopolysaccharidosis patients were evaluated. The classification consisted of type I (Hurler syndrome, Hurler-Scheie and

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