Sialidosis type I: ophthalmological findings. - Wikidata - awgldk - TriplyDB

Sialidosis type I: ophthalmological findings.

Sialidosis type I: ophthalmological findings.

http://www.wikidata.org/entity/Q38260885

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Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.

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Sialidosis type I: ophthalmological findings.

http://www.wikidata.org/entity/Q38260885

description

2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

@zh-hans

2014年学术文章

@zh-my

2014年学术文章

@zh-sg

2014年學術文章

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2014年學術文章

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2014年學術文章

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name

Sialidosis type I: ophthalmological findings.

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type

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Sialidosis type I: ophthalmological findings.

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Sialidosis type I: ophthalmological findings.

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BCR-2014-205871

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BMJ case reports

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Sialidosis type I: ophthalmological findings

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Isa Sobral

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P2860

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Lysosomal multienzyme complex: pros and cons of working together

Molecular pathology of NEU1 gene in sialidosis.

Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis

The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis.

Observations on time course changes of the cherry red spot in a patient with Tay-Sachs disease.

Clinical and serial MRI findings of a sialidosis type I patient with a novel missense mutation in the NEU1 gene.

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.

Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia.

Variable phenotype and severity of sialidosis expressed in two siblings presenting with ataxia and macular cherry-red spots.

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scholarly article

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10.1136/BCR-2014-205871

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2014

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Maria Luz Cachulo

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2014-10-16T00:00:00Z

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25323282

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4202095

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