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Estimating morbidity rates from electronic medical records in general practice. Evaluation of a grouping system

Methods of information in medicine, 2008, Vol.47 (2), p.98

2008

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MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency

American journal of neuroradiology : AJNR, 1998-02, Vol.19 (2), p.378-382

1998

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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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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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Family history and cardiovascular risk in familial hypercholesterolemia: Data in more than 1000 children

Circulation (New York, N.Y.), 2003-03, Vol.107 (11), p.1473-1478

2003

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Relative importance of urbanicity, ethnicity and socioeconomic factors regarding area mortality differences

Journal of epidemiology and community health (1979), 1999-07, Vol.53 (7), p.444-445

1999

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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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Clinical features of galactokinase deficiency:A review of the literature

Journal of inherited metabolic disease, 2003-02, Vol.25 (8), p.629-634

2003

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Integrating care by implementation of bundled payments: results from a national survey on the experience of Dutch dietitians

International journal of integrated care, 2013, Vol.13 (4), p.e055-e055

2013

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Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism

Molecular genetics and metabolism, 2006-06, Vol.88 (2), p.159-165

2006

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Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica‐like syndrome

British journal of dermatology (1951), 1998-09, Vol.139 (3), p.488-491

1998

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A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria

Human mutation, 2006-07, Vol.27 (7), p.640-643

2006

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Autosomal Glycogenosis of Liver and Muscle Due to Phosphorylase Kinase Deficiency is Caused by Mutations in the Phosphorylase Kinase β Subunit (PHKB)

Human molecular genetics, 1997-07, Vol.6 (7), p.1109-1115

1997

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Spontaneous pregnancy in a patient with classical galactosaemia

Journal of inherited metabolic disease, 1999-08, Vol.22 (6), p.754-755

1999

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Familial mitochondrial DNA depletion in liver : haplotype analysis of candidate genes

Human genetics, 1998-03, Vol.102 (3), p.327-331

1998

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Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.240-242

1999

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Loss to follow-up of cervical smears without endocervical columnar cells is not disturbing

European journal of gynaecological oncology, 2006, Vol.27 (1), p.42-46

2006

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Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation

Journal of inherited metabolic disease, 1999-04, Vol.22 (2), p.191-192

1999

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A measuring instrument for evaluation of quality systems

International journal for quality in health care, 1999-04, Vol.11 (2), p.119-130

1999

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Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia

Arteriosclerosis, thrombosis, and vascular biology, 1997-05, Vol.17 (5), p.826-833

1997

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The spectrum of statin therapy in hyperlipidemic children

Seminars in vascular medicine, 2004-11, Vol.4 (4), p.313

2004

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Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy

JIMD Reports, Volume 22, 2015, Vol.22, p.39-45

2015

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Clinical and biochemical findings in six patients with pyrimidine degradation defects

Journal of inherited metabolic disease, 1994-01, Vol.17 (1), p.130-132

1994

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Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urine

Journal of inherited metabolic disease, 1995-03, Vol.18 (2), p.182-184

1995

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Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions

Neuropediatrics, 1993-06, Vol.24 (3), p.139-142

1993

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Estimating morbidity rates from electronic medical records in general practice. Evaluation of a grouping system

MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency

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

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

Family history and cardiovascular risk in familial hypercholesterolemia: Data in more than 1000 children

Relative importance of urbanicity, ethnicity and socioeconomic factors regarding area mortality differences

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

Clinical features of galactokinase deficiency:A review of the literature

Integrating care by implementation of bundled payments: results from a national survey on the experience of Dutch dietitians

Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism

Iatrogenic isolated isoleucine deficiency as the cause of an acrodermatitis enteropathica‐like syndrome

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria

Autosomal Glycogenosis of Liver and Muscle Due to Phosphorylase Kinase Deficiency is Caused by Mutations in the Phosphorylase Kinase β Subunit (PHKB)

Spontaneous pregnancy in a patient with classical galactosaemia

Familial mitochondrial DNA depletion in liver : haplotype analysis of candidate genes

Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency

Loss to follow-up of cervical smears without endocervical columnar cells is not disturbing

Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation

A measuring instrument for evaluation of quality systems

Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia

The spectrum of statin therapy in hyperlipidemic children

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy

Clinical and biochemical findings in six patients with pyrimidine degradation defects

Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urine

Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions

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