A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

D. H.J. Martens; T. W. Kuijpers; N. A. Maianski; J. P. Rake; G. P.A. Smit; G. Visser

doi:10.1007/s10545-006-0146-x

A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

D. H.J. Martens^*, T. W. Kuijpers, N. A. Maianski, J. P. Rake, G. P.A. Smit, G. Visser

^*Corresponding author for this work

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

7 Citations (Scopus)

Abstract

We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.

Original language	English
Pages (from-to)	224-225
Number of pages	2
Journal	Journal of Inherited Metabolic Disease
Volume	29
Issue number	1
DOIs	https://doi.org/10.1007/s10545-006-0146-x
Publication status	Published - 1 Feb 2006

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title = "A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction",

abstract = "We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.",

author = "Martens, {D. H.J.} and Kuijpers, {T. W.} and Maianski, {N. A.} and Rake, {J. P.} and Smit, {G. P.A.} and G. Visser",

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AU - Martens, D. H.J.

AU - Kuijpers, T. W.

AU - Maianski, N. A.

AU - Rake, J. P.

AU - Smit, G. P.A.

AU - Visser, G.

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N2 - We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.

AB - We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.

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JF - Journal of Inherited Metabolic Disease

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A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

Abstract

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