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Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European Study on Glycogen Storage Disease Type I

The Journal of pediatrics, 2000-08, Vol.137 (2), p.187-191

2000

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Cohort Profile: The GECKO Drenthe study, overweight programming during early childhood

International journal of epidemiology, 2008-06, Vol.37 (3), p.486-489

2008

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Characteristic growth pattern in male X‐linked phosphorylase‐b kinase deficiency (GSD IX)

Journal of inherited metabolic disease, 2003-07, Vol.26 (1), p.43-47

2003

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

Journal of inherited metabolic disease, 2006-02, Vol.29 (1), p.224-225

2006

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Normal very‐long‐chain fatty acids in peroxisomal D‐bifunctional protein deficiency: A diagnostic pitfall

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1172-1174

2005

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Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: A cross‐sectional and longitudinal study

Journal of inherited metabolic disease, 2003-01, Vol.26 (4), p.371-384

2003

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Intestinal function in glycogen storage disease type I

Journal of inherited metabolic disease, 2002-06, Vol.25 (4), p.261-267

2002

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1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter

European radiology, 2005-09, Vol.15 (9), p.1923-1926

2005

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End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency : no contra-indication for liver transplantation

European journal of pediatrics, 2000-07, Vol.159 (7), p.523-526

2000

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Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)

European journal of pediatrics, 2002-10, Vol.161 Suppl 1 (1), p.S112-S119

2002

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Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c

Journal of inherited metabolic disease, 1998-06, Vol.21 (3), p.227-231

1998

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Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart

European journal of pediatrics, 2000-05, Vol.159 (5), p.322-330

2000

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Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes

Human mutation, 2000-04, Vol.15 (4), p.381-381

2000

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Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)

European journal of pediatrics, 2002-01, Vol.161, p.S20-S34

2002

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Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online

Human mutation, 1999, Vol.13 (2), p.173-173

1999

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Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a

Pediatric research, 2008-06, Vol.63 (6), p.702-707

2008

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Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b)

Blood, 2003-06, Vol.101 (12), p.5021-5024

2003

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super(1)H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter

European radiology, 2005-09, Vol.15 (9), p.1923-1926

2005

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Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1

European journal of pediatrics, 2002-01, Vol.161, p.S120-S123

2002

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Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1

European journal of pediatrics, 2002-10, Vol.161 Suppl 1 (1), p.S120-S123

2002

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Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1

European journal of pediatrics, 2002-01, Vol.161, p.S83-S87

2002

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Convulsies bij de à terme neonaat: welke etiologie?: Een diagnostisch stappenplan

Tijdschrift voor kindergeneeskunde, 2007-02, Vol.75 (1), p.1-9

2007

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Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a

The Journal of pediatrics, 2002-02, Vol.140 (2), p.256-260

2002

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Is glycogen storage disease 1a associated with atherosclerosis?

European journal of pediatrics, 2002-01, Vol.161, p.S62-S64

2002

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Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart

European journal of pediatrics, 2000-05, Vol.159 (5), p.322-330

2000

Volltextzugriff (PDF)

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Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: Results of the European Study on Glycogen Storage Disease Type I

Cohort Profile: The GECKO Drenthe study, overweight programming during early childhood

Characteristic growth pattern in male X‐linked phosphorylase‐b kinase deficiency (GSD IX)

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

Normal very‐long‐chain fatty acids in peroxisomal D‐bifunctional protein deficiency: A diagnostic pitfall

Bone mineral density in children, adolescents and adults with glycogen storage disease type Ia: A cross‐sectional and longitudinal study

Intestinal function in glycogen storage disease type I

1H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter

End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency : no contra-indication for liver transplantation

Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I)

Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart

Identification of a novel mutation (867delA) in the glucose-6-phosphatase gene in two siblings with glycogen storage disease type Ia with different phenotypes

Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)

Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online

Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a

Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b)

super(1)H chemical shift imaging of the brain in guanidino methyltransferase deficiency, a creatine deficiency syndrome; guanidinoacetate accumulation in the gray matter

Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1

Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1

Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1

Convulsies bij de à terme neonaat: welke etiologie?: Een diagnostisch stappenplan

Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a

Is glycogen storage disease 1a associated with atherosclerosis?

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart

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