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Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.916-923

2007

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Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency

Journal of inherited metabolic disease, 2008-02, Vol.31 (1), p.88-96

2008

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Hyperlipidemia in glycogen storage disease type III: Effect of age and metabolic control

Journal of inherited metabolic disease, 2008-12, Vol.31 (6), p.729-732

2008

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Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Human molecular genetics, 1999-08, Vol.8 (8), p.1523-1528

1999

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MR spectroscopy of the brain in Leigh syndrome

Brain & development (Tokyo. 1979), 2008-10, Vol.30 (9), p.579-583

2008

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Liver transplantation for glycogen storage disease types I, III, and IV

European journal of pediatrics, 1999-12, Vol.158 Suppl 2 (S2), p.S43-S048

1999

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A different approach to breast-feeding of the infant with phenylketonuria

European journal of pediatrics, 2003-05, Vol.162 (5), p.323-326

2003

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Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.27-31

2009

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From genome to phenome—Simple inborn errors of metabolism as complex traits

Biochimica et biophysica acta. Molecular basis of disease, 2014-10, Vol.1842 (10), p.2021-2029

2014

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Liver transplantation in glycogen storage disease type I

Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.47-47, Article 47

2014

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NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic

Journal of inherited metabolic disease, 2004-11, Vol.27 (6), p.725-733

2004

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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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Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

Human genetics, 1999-01, Vol.104 (1), p.1-9

1999

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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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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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Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency

Journal of inherited metabolic disease, 2005-01, Vol.28 (1), p.95-98

2005

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Succinyl-CoA :acetoacetate transferase deficiency : identification of a new patient with a neonatal onset and review of the literature

European journal of pediatrics, 1997-11, Vol.156 (11), p.870-873

1997

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Inherited metabolic diseases and pregnancy

BJOG : an international journal of obstetrics and gynaecology, 2005-01, Vol.112 (1), p.2-11

2005

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A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency

Journal of inherited metabolic disease, 1996-01, Vol.19 (5), p.645-654

1996

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The success of dietary protein restriction in alkaptonuria patients is age‐dependent

Journal of inherited metabolic disease, 1998-12, Vol.21 (8), p.791-798

1998

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Phenylketonuria: Tyrosine beyond the phenylalanine‐restricted diet

Journal of inherited metabolic disease, 2001-02, Vol.24 (1), p.1-4

2001

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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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Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing

Pediatrics (Evanston), 1993-10, Vol.92 (4), p.570-573

1993

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Neurotransmitter positron emission tomographic-studies in adults with phenylketonuria, a pilot study

European journal of pediatrics, 1996-07, Vol.155 Suppl 1 (S1), p.S78-S81

1996

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Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency

Hyperlipidemia in glycogen storage disease type III: Effect of age and metabolic control

Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

MR spectroscopy of the brain in Leigh syndrome

Liver transplantation for glycogen storage disease types I, III, and IV

A different approach to breast-feeding of the infant with phenylketonuria

Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia

From genome to phenome—Simple inborn errors of metabolism as complex traits

Liver transplantation in glycogen storage disease type I

NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic

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

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency

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

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

Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency

Succinyl-CoA :acetoacetate transferase deficiency : identification of a new patient with a neonatal onset and review of the literature

Inherited metabolic diseases and pregnancy

A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency

The success of dietary protein restriction in alkaptonuria patients is age‐dependent

Phenylketonuria: Tyrosine beyond the phenylalanine‐restricted diet

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

Plasma phenylalanine and tyrosine responses to different nutritional conditions (fasting/postprandial) in patients with phenylketonuria: effect of sample timing

Neurotransmitter positron emission tomographic-studies in adults with phenylketonuria, a pilot study

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