mucolipidoses/bodhaire

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Roghnaigh cineál sórtála

9 torthaí

Hearing impairment in two boys with I-cell disease.

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Logáil Isteach / Cláraigh

Auditory brainstem responses (ABR) were analyzed in 2 boys with I-cell disease. Both patients showed a prolonged latency of wave I, a normal I-V interpeak latency and an elevated threshold of wave V. The intensity-latency curve had a steep slope. These abnormal ABR findings reflect the presence of

Adult mucolipidosis with beta-galactosidase and neuraminidase deficiencies.

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Logáil Isteach / Cláraigh

An adult case of mucolipidosis with beta-galactosidase and neuraminidase deficiencies is reported. The patient was a 35-year-old Japanese female with coarse face, lumbar vertebral beaking, action myoclonus, cerebellar ataxia, clouding of the cornea, macular cherry-red spots, hearing loss and

Five year follow-up of two sisters with type II sialidosis: systemic and ophthalmic findings including OCT analysis.

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Logáil Isteach / Cláraigh

The authors report a 5-year follow-up examination of two sisters diagnosed as having a juvenile form of type II sialidosis. Diagnosis occurred during a routine ophthalmic examination when the girls were 5 and 3 years old after bilateral macular cherry-red spots were revealed. Main clinical findings

Musculoskeletal/Radiological Manifestations of Mucolipidosis II (I-Cell disease) in late Adolescence/Early Adulthood.

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Logáil Isteach / Cláraigh

Mucolipidosis type II (I-Cell disease) is a rare autosomal recessive lysosomal disorder, resulting from functional deficiency of lysosomal enzymes due to an impaired targeting of the enzymes to lysosomes, which leads to an abnormal cell architecture and the overflow of lysosomal enzymes into the

Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice.

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Logáil Isteach / Cláraigh

The neuraminidase-1 (Neu1) knockout mouse model is a phenocopy of the lysosomal storage disease (LSD) sialidosis, characterized by multisystemic and neuropathic symptoms, including hearing loss. We have characterized the auditory defects in Neu1(-/-) mice and found that hearing loss involves both

Other autosomal recessive and childhood ataxias.

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Logáil Isteach / Cláraigh

The label of "early-onset cerebellar ataxia with retained tendon reflexes" (EOCA) has been created to differentiate it from Friedreich ataxia (FRDA) patients with preserved knee jerks and absence of cardiomyopathy, optic atrophy, and diabetes mellitus. However, EOCA is a heterogeneous syndrome and

Development of TaqMan allelic discrimination based genotyping of large DNA deletions.

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Logáil Isteach / Cláraigh

The high prevalence of genetic diseases resulting from gross deletions has highlighted a need for a quick, simple, and reliable method of genotyping these mutations. Here, we developed a novel strategy for applying TaqMan allelic discrimination to accurately genotype 3 different large deletions in a

[Morphological and functional alterations of ear in lysosomal neuraminidase gene deficient mouse].

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Logáil Isteach / Cláraigh

OBJECTIVE To observe the alterations of the auditory function and morphology of the ear in the mouse sialidosis models which has been generated by targeted deletion of lysosomal neuraminidase gene (Neul) and closely resembled the phenotypes in corresponding human conditions, and to explore

Mucopolysaccharidosis VI.

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Logáil Isteach / Cláraigh

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 sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a

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Herbal & Natural Medicine

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