Nieuwe inzichten in de ziekte van Niemann-Pick B

Sabine A. Fuchs; F. A.A. Langius; W. P.M. Rijnvos; P. G.J. Nikkels; F. A. Wijburg; G. Visser

Nieuwe inzichten in de ziekte van Niemann-Pick B

Translated title of the contribution: New insights into the Niemann-Pick type B disease

Sabine A. Fuchs^*, F. A.A. Langius, W. P.M. Rijnvos, P. G.J. Nikkels, F. A. Wijburg, G. Visser

^*Corresponding author for this work

Research output: Contribution to journal › Article › Professional

Abstract

Types A and B Niemann-Pick disease (NPD) are rare lysosomal storage disorders that result from the deficient activity of acid sphingomyelinase (ASM). We describe three patients presenting with unexplained hepatosplenomegaly, due to NPD type B. Diagnosis was made by determination of deficient ASM activity in leukocytes and mutation analysis in fibroblasts. Until recently, there was no specific therapy for NPD. The preliminary results with enzyme therapy for NPD type B have been so promising that clinical evaluation is presently performed. The minimal burden for the patient and the short-term feasibility further contribute to this important therapeutic option for patients with this currently fatal condition.

Translated title of the contribution	New insights into the Niemann-Pick type B disease
Original language	Dutch
Pages (from-to)	235-238
Number of pages	4
Journal	Tijdschrift voor Kindergeneeskunde
Volume	72
Issue number	6
Publication status	Published - 2004

Keywords

Econometric and Statistical Methods: General
Genetics
Geneeskunde(GENK)
Algemeen onderzoek
Pathology

Cite this

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title = "Nieuwe inzichten in de ziekte van Niemann-Pick B",

abstract = "Types A and B Niemann-Pick disease (NPD) are rare lysosomal storage disorders that result from the deficient activity of acid sphingomyelinase (ASM). We describe three patients presenting with unexplained hepatosplenomegaly, due to NPD type B. Diagnosis was made by determination of deficient ASM activity in leukocytes and mutation analysis in fibroblasts. Until recently, there was no specific therapy for NPD. The preliminary results with enzyme therapy for NPD type B have been so promising that clinical evaluation is presently performed. The minimal burden for the patient and the short-term feasibility further contribute to this important therapeutic option for patients with this currently fatal condition.",

keywords = "Econometric and Statistical Methods: General, Genetics, Geneeskunde(GENK), Algemeen onderzoek, Pathology",

author = "Fuchs, {Sabine A.} and Langius, {F. A.A.} and Rijnvos, {W. P.M.} and Nikkels, {P. G.J.} and Wijburg, {F. A.} and G. Visser",

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language = "Dutch",

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AU - Fuchs, Sabine A.

AU - Langius, F. A.A.

AU - Rijnvos, W. P.M.

AU - Nikkels, P. G.J.

AU - Wijburg, F. A.

AU - Visser, G.

PY - 2004

Y1 - 2004

N2 - Types A and B Niemann-Pick disease (NPD) are rare lysosomal storage disorders that result from the deficient activity of acid sphingomyelinase (ASM). We describe three patients presenting with unexplained hepatosplenomegaly, due to NPD type B. Diagnosis was made by determination of deficient ASM activity in leukocytes and mutation analysis in fibroblasts. Until recently, there was no specific therapy for NPD. The preliminary results with enzyme therapy for NPD type B have been so promising that clinical evaluation is presently performed. The minimal burden for the patient and the short-term feasibility further contribute to this important therapeutic option for patients with this currently fatal condition.

AB - Types A and B Niemann-Pick disease (NPD) are rare lysosomal storage disorders that result from the deficient activity of acid sphingomyelinase (ASM). We describe three patients presenting with unexplained hepatosplenomegaly, due to NPD type B. Diagnosis was made by determination of deficient ASM activity in leukocytes and mutation analysis in fibroblasts. Until recently, there was no specific therapy for NPD. The preliminary results with enzyme therapy for NPD type B have been so promising that clinical evaluation is presently performed. The minimal burden for the patient and the short-term feasibility further contribute to this important therapeutic option for patients with this currently fatal condition.

KW - Econometric and Statistical Methods: General

KW - Genetics

KW - Geneeskunde(GENK)

KW - Algemeen onderzoek

KW - Pathology

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SN - 0376-7442

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SP - 235

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JO - Tijdschrift voor Kindergeneeskunde

JF - Tijdschrift voor Kindergeneeskunde

IS - 6

ER -

Nieuwe inzichten in de ziekte van Niemann-Pick B

Abstract

Keywords

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