Works matching DE "SIALIDOSES"
Results: 30
Sialidosis type I with neoplasms in siblings: the first clinical cases.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A.
- Published in:
- EMBO Journal, 1998, v. 17, n. 6, p. 1588, doi. 10.1093/emboj/17.6.1588
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- Publication type:
- Article
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal α-N-acetyl-neuraminidase (sialidase) gene.
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 421, doi. 10.1007/s004390100592
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- Publication type:
- Article
Sialidosis type I presenting with a novel mutation and advanced neuroimaging features.
- Published in:
- Neurosciences, 2018, v. 23, n. 1, p. 57, doi. 10.17712/nsj.2018.1.20170328
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- Publication type:
- Article
A longitudinal study of Taiwanese Sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome.
- Published in:
- European Journal of Neurology, 2009, v. 16, n. 8, p. 912, doi. 10.1111/j.1468-1331.2009.02622.x
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- Publication type:
- Article
Spinal anesthesia for a patient with type I sialidosis undergoing abdominal surgery.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression (Communicated by Georgia Chenevix-Trench).
- Published in:
- Human Mutation, 2004, v. 23, n. 1, p. 32, doi. 10.1002/humu.10278
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- Publication type:
- Article
Molecular pathology of NEU1 gene in sialidosis(Communicated by Mark H. Paalman).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 343, doi. 10.1002/humu.10268
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- Publication type:
- Article
Exclusion of NEU1 and PPGB from candidate genes for a lysosomal storage disease in Japanese Black cattle.
- Published in:
- Animal Science Journal, 2009, v. 80, n. 5, p. 611, doi. 10.1111/j.1740-0929.2009.00678.x
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- Publication type:
- Article
Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder.
- Published in:
- Diagnostics (2075-4418), 2018, v. 8, n. 2, p. 29, doi. 10.3390/diagnostics8020029
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- Publication type:
- Article
Molecular and structural studies of Japanese patients with sialidosis type 1.
- Published in:
- Journal of Human Genetics, 2000, v. 45, n. 4, p. 241, doi. 10.1007/s100380070034
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- Publication type:
- Article
Tip II sialidoz: Bir vaka takdimi.
- Published in:
- Cocuk Sagligi ve Hastaliklari Dergisi, 2013, v. 56, n. 4, p. 181
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- Publication type:
- Article
Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2021, v. 11, p. 1, doi. 10.5334/tohm.652
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- Publication type:
- Article
A case of adult type galactosialidosis with involvement of peripheral nerves.
- Published in:
- Journal of Neurology, 2000, v. 247, n. 9, p. 708, doi. 10.1007/s004150070116
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- Publication type:
- Article
CITATIONS AND CLINICIANS' NOTES: GENETICS.
- Published in:
- 2004
- Publication type:
- Abstract
Mucolipidosis II: a single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene ( GNPTAB) in a French Canadian founder population.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 3, p. 236, doi. 10.1111/j.1399-0004.2007.00954.x
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- Publication type:
- Article
Sialidosis type I carrying V217M/G243R mutations in lysosomal sialidase: an autopsy study demonstrating terminal sialic acid in lysosomal lamellar inclusions and cerebellar dysplasia.
- Published in:
- 2010
- By:
- Publication type:
- Report
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 18, p. 2715, doi. 10.1093/hmg/9.18.2715
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- Publication type:
- Article
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1075, doi. 10.1093/hmg/9.7.1075
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- Publication type:
- Article
Cloning of the cDNA and gene encoding mouse lysosomal sialidase and correction of sialidase deficiency in human sialidosis and mouse SM/J fibroblasts.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 1, p. 115, doi. 10.1093/hmg/7.1.115
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- Publication type:
- Article
Clinical presentation of congenital sialidosis in a patient with a neuraminidase gene frameshift mutation.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Type I Sialidosis: A Clinical, Biochemical and Neuroradiological Study.
- Published in:
- European Neurology, 2000, v. 43, n. 2, p. 88, doi. 10.1159/000008141
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- Publication type:
- Article
Fundus autofluorescence and optical coherence tomography of a macular cherry-red spot in a case report of sialidosis.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Histological Studies of Renal Biopsy in a Boy with Nephrosialidosis.
- Published in:
- Ultrastructural Pathology, 2011, v. 35, n. 4, p. 168, doi. 10.3109/01913123.2011.563340
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- Publication type:
- Article
Progressive myoclonic epilepsy.
- Published in:
- Neurology India, 2010, v. 58, n. 4, p. 514, doi. 10.4103/0028-3886.68660
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- Publication type:
- Article
Progressive myoclonic epilepsy.
- Published in:
- Cerebellum, 2004, v. 3, n. 3, p. 156, doi. 10.1080/14734220410035356
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- Publication type:
- Article
A 5-Day-Old Boy With Hydrops Fetalis.
- Published in:
- 2003
- By:
- Publication type:
- Case Study
Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India.
- Published in:
- Indian Journal of Medical Research, 2012, v. 136, n. 6, p. 1048
- By:
- Publication type:
- Article
Sialidosis Presenting as Severe Nonimmune Fetal Hydrops is Associated with Two Novel Mutations in Lysosomal α-Neuraminidase.
- Published in:
- Journal of Perinatology, 2005, v. 25, n. 7, p. 491, doi. 10.1038/sj.jp.7211335
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- Publication type:
- Article