Abstract
We report undescribed pulmonary findings in a child with mucolipidosis II (ML-II). Children with ML-II bear significant pulmonary morbidity that may include extensive pulmonary fibrosis, persistent hemosiderosis as well as pulmonary airway excrescences as they reach preschool age.
Copyright © 2011 Wiley Periodicals, Inc.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
MeSH terms
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Cord Blood Stem Cell Transplantation
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Hemosiderosis / enzymology
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Hemosiderosis / genetics*
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Hemosiderosis / pathology
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Hemosiderosis, Pulmonary
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Humans
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Infant
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Lung Diseases / enzymology
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Lung Diseases / genetics*
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Lung Diseases / pathology
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Male
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Mucolipidoses / complications*
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Mucolipidoses / enzymology
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Mucolipidoses / genetics*
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Mucolipidoses / pathology
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Mucolipidoses / surgery
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Mutation
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Pulmonary Fibrosis / enzymology
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Pulmonary Fibrosis / genetics*
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Pulmonary Fibrosis / pathology
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Transferases (Other Substituted Phosphate Groups) / genetics
Substances
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Transferases (Other Substituted Phosphate Groups)
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GNPTAB protein, human