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The Natural History of Mucolipidosis Type IV - LDN 6704

ABSTRACT: The Natural History of Mucolipidosis Type IV - LDN 6704

PROVIDER: PRJNA378815 | ENA |

REPOSITORIES: ENA

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The Natural History of Mucolipidosis Type IV

Project description:Mucolipidosis type IV (MLIV) is an autosomal recessive disorder typically characterized by severe psychomotor delay evident by the end of the first year of life and slowly progressive visual impairment during the first decade as a result of a combination of corneal clouding and retinal degeneration. The purpose of this research study is to look at the brain and eye in patients with mucolipidosis type IV (MLIV). MLIV is a lysosomal storage disease that primarily affects the brain and the eyes. The disease is caused by a defect in a gene called MCLON1 that makes a protein called mucolipin-1. Patients with MLIV do not make enough normal mucolipin. The disease begins early in life and the neurological problems seem to stabilize later in life. On the other hand, the eye abnormalities usually progresses over time. The exact course of the disease has not been determined, and until now, no study has addressed this question carefully. The research objectives are: <ol> <li>To learn about the natural history of cognitive function for individuals with mucolipidosis type IV.</li> <li>To measure brain volume over time in individuals with mucolipidosis type IV</li> </ol> This is an observational study of individuals with MLIV disorder. Those participating in this study will be evaluated annually for five years following a baseline visit.

| phs001329 | dbGaP

Homo sapiens

Project description:The Natural History of Mucolipidosis Type IV - LDN 6704

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Natural History and Structural Functional Relationships in Fabry Renal Disease - LDN 6702

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Gene expression profile in individuals affected by Mucolipidosis type IV

Project description:We compared gene expression profiling of fibroblasts from individuals affected by Mucolipidosis type IV (MLIV) and healthy ones (AB). Keywords: Disease state analysis

2008-02-11 | GSE5444 | GEO

Gene expression profile in individuals affected by Mucolipidosis type IV

Project description:We compared gene expression profiling of fibroblasts from individuals affected by Mucolipidosis type IV (MLIV) and healthy ones (AB). We directly compared MLIV indivisuals versus normal controls. A total of four technical replicate hybridizations were performed.

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Pathological pathways and biomarker in Mucolipidosis type IV mice and post mortem patient.

Project description:In this study we present data from the only available post-mortem mucolipidosis type IV (MLIV) patient. We characterise the brain pathology of the MLIV patient and compare it to pathology from the mice model of MLIV. Moreover, we characterise the proteins found in the MLIV patient CSF and compare it to the mice MLIV CSF. We define possible biomarkers for this devastating disease.

2021-08-10 | PXD020490 | Pride

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