No abstract available
Publication types
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Letter
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Humans
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Mutation*
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Niemann-Pick Diseases / enzymology*
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Niemann-Pick Diseases / genetics
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Reproducibility of Results
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Sphingomyelin Phosphodiesterase / deficiency*
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Sphingomyelin Phosphodiesterase / genetics
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Tandem Mass Spectrometry / methods*
Substances
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Sphingomyelin Phosphodiesterase