No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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1-Acylglycerol-3-Phosphate O-Acyltransferase
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Child
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Consanguinity
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Diagnosis, Differential
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Hepatomegaly / diagnosis
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Humans
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Ichthyosis / genetics*
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Lipase / genetics
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Lipase / metabolism*
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Lipid Metabolism, Inborn Errors / diagnosis
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Lipid Metabolism, Inborn Errors / genetics*
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Male
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Muscular Diseases / genetics*
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Mutation / genetics*
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Phenotype
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Syndrome
Substances
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1-Acylglycerol-3-Phosphate O-Acyltransferase
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ABHD5 protein, human
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Lipase