No abstract available
MeSH terms
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1-Acylglycerol-3-Phosphate O-Acyltransferase
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Adult
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Age Factors
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Biopsy, Needle
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Esterases / genetics*
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Follow-Up Studies
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Humans
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Ichthyosis, Lamellar / diagnosis
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Ichthyosis, Lamellar / genetics*
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Ichthyosis, Lamellar / pathology
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Immunohistochemistry
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Lipase / genetics*
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Lipid Metabolism, Inborn Errors / pathology*
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Male
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Mutation*
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Pedigree
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Severity of Illness Index
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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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Esterases
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Lipase