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Natural history of alpha mannosidosis a longitudinal study
BACKGROUND: Alpha-Mannosidosis is a rare lysosomal storage disorder, caused by the deficiency of the enzyme alpha-Mannosidase. Clinically it is characterized by hearing impairment, skeletal and neurological abnormalities and mental retardation. In order to characterize the clinical features and dise...
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| 主要な著者: | , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3691585/ https://ncbi.nlm.nih.gov/pubmed/23786919 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-88 |
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