Niemann-Pick disease type A and B are clinically but also biochemically heterogeneous: Pittfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292K

K Harzer, A Rolfs, P Bauer, M Zchiesche, E Mengel, J Backes, B Kustermann-Kuhn, G Bruchelt, Otto Diggelen, H Mayrhofer, I Krägeloh-Mann

Research output: Contribution to journalArticleAcademicpeer-review

38 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)301-306
Number of pages6
JournalNeuropediatrics
Volume34
Publication statusPublished - 2003

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