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

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

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

49 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	301-306
Number of pages	6
Journal	Neuropediatrics
Volume	34
Publication status	Published - 2003

Research programs

EMC MGC-02-96-01

Cite this

Harzer, K., Rolfs, A., Bauer, P., Zchiesche, M., Mengel, E., Backes, J., Kustermann-Kuhn, B., Bruchelt, G., Diggelen, O., Mayrhofer, H., & Krägeloh-Mann, I. (2003). 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. Neuropediatrics, 34, 301-306.

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title = "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",

author = "K Harzer and A Rolfs and P Bauer and M Zchiesche and E Mengel and J Backes and B Kustermann-Kuhn and G Bruchelt and Otto Diggelen and H Mayrhofer and I Kr{\"a}geloh-Mann",

year = "2003",

language = "Undefined/Unknown",

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pages = "301--306",

journal = "Neuropediatrics",

issn = "0174-304X",

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Harzer, K, Rolfs, A, Bauer, P, Zchiesche, M, Mengel, E, Backes, J, Kustermann-Kuhn, B, Bruchelt, G, Diggelen, O, Mayrhofer, H & Krägeloh-Mann, I 2003, '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', Neuropediatrics, vol. 34, pp. 301-306.

TY - JOUR

T1 - 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

AU - Harzer, K

AU - Rolfs, A

AU - Bauer, P

AU - Zchiesche, M

AU - Mengel, E

AU - Backes, J

AU - Kustermann-Kuhn, B

AU - Bruchelt, G

AU - Diggelen, Otto

AU - Mayrhofer, H

AU - Krägeloh-Mann, I

PY - 2003

Y1 - 2003

M3 - Article

SN - 0174-304X

VL - 34

SP - 301

EP - 306

JO - Neuropediatrics

JF - Neuropediatrics

ER -