(Q44697545)
Statements
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Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. (English)
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Harzer K
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Rolfs A
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Bauer P
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Zschiesche M
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Mengel E
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Backes J
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Kustermann-Kuhn B
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Bruchelt G
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van Diggelen OP
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Mayrhofer H
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Krägeloh-Mann I
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1 December 2003
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34
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6
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301-306
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Identifiers
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