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Flux analysis of inborn errors of metabolism

Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.309-328

Reijngoud, D.-J.

2018

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Soraphen, an inhibitor of the acetyl-CoA carboxylase system, improves peripheral insulin sensitivity in mice fed a high-fat diet

Diabetes, obesity & metabolism, 2009-10, Vol.11 (10), p.987-991

2009

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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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Sustained activation of the mammalian target of rapamycin nutrient sensing pathway is associated with hepatic insulin resistance, but not with steatosis, in mice

Diabetologia, 2006-12, Vol.49 (12), p.3049-3057

2006

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Targeting tumour metabolism in melanoma to enhance response to immune checkpoint inhibition: A balancing act

Cancer treatment reviews, 2024-09, Vol.129, p.102802, Article 102802

2024

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Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses

Molecular genetics and metabolism, 2010, Vol.99, p.S86-S89

2010

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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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Homocysteine and methionine metabolism in ESRD: A stable isotope study

Kidney international, 1999-09, Vol.56 (3), p.1064-1071

1999

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Enhanced glucose cycling and suppressed de novo synthesis of glucose-6-phosphate result in a net unchanged hepatic glucose output in ob/ob mice

Diabetologia, 2004-11, Vol.47 (11), p.2022-2031

2004

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A novel approach to monitor glucose metabolism using stable isotopically labelled glucose in longitudinal studies in mice

Laboratory animals (London), 2013-04, Vol.47 (2), p.79-88

2013

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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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Evidence for increased synthesis of lipoprotein(a) in the nephrotic syndrome

Journal of the American Society of Nephrology, 1998-08, Vol.9 (8), p.1474-1481

1998

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Hepatic de Novo Synthesis of Glucose 6-Phosphate Is Not Affected in Peroxisome Proliferator-activated Receptor α-Deficient Mice but Is Preferentially Directed toward Hepatic Glycogen Stores after a Short Term Fast

The Journal of biological chemistry, 2004-03, Vol.279 (10), p.8930-8937

2004

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Resting oxygen consumption and in vivo ADP are increased in myopathy due to complex I deficiency

Neurology, 2002-04, Vol.58 (7), p.1088-1093

2002

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Increased VLDL in nephrotic patients results from a decreased catabolism while increased LDL results from increased synthesis

Kidney international, 1998-04, Vol.53 (4), p.994-1001

1998

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A patient with acute liver failure and extreme hypoglycaemia with lactic acidosis who was not in a coma: causes and consequences of lactate-protected hypoglycaemia

Anaesthesia and intensive care, 2014-07, Vol.42 (4), p.507-511

2014

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Proportionate increase of fibrinogen and albumin synthesis in nephrotic patients: Measurements with stable isotopes

Kidney international, 1998-01, Vol.53 (1), p.181-188

1998

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Plasma phenylalanine in patients with phenylketonuria self-managing their diet

Archives of disease in childhood, 2005-02, Vol.90 (2), p.163-164

2005

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Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency

Molecular genetics and metabolism, 2006-05, Vol.88 (1), p.100-102

2006

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Plasma folic acid cutoff value, derived from its relationship with homocyst(e)ine

Clinical chemistry (Baltimore, Md.), 1998-07, Vol.44 (7), p.1545-1550

1998

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Fatty acid and amino acid modulation of glucose cycling in isolated rat hepatocytes

Biochemical journal, 2001-09, Vol.358 (Pt 3), p.665-671

2001

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Low diagnostic value of fasting and post-methionine load homocysteine tests. A study in Dutch subjects with homocysteine test indications

Clinica chimica acta, 2003-05, Vol.331 (1), p.153-157

2003

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Xanthinuria in a family of Cavalier king Charles Spaniels

The Veterinary quarterly, 1997-11, Vol.19 (4), p.172-174

1997

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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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High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment?

Molecular genetics and metabolism, 2006-11, Vol.89 (3), p.274-276

2006

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Flux analysis of inborn errors of metabolism

Soraphen, an inhibitor of the acetyl-CoA carboxylase system, improves peripheral insulin sensitivity in mice fed a high-fat diet

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

Sustained activation of the mammalian target of rapamycin nutrient sensing pathway is associated with hepatic insulin resistance, but not with steatosis, in mice

Targeting tumour metabolism in melanoma to enhance response to immune checkpoint inhibition: A balancing act

Pathogenesis of cognitive dysfunction in phenylketonuria: Review of hypotheses

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

Homocysteine and methionine metabolism in ESRD: A stable isotope study

Enhanced glucose cycling and suppressed de novo synthesis of glucose-6-phosphate result in a net unchanged hepatic glucose output in ob/ob mice

A novel approach to monitor glucose metabolism using stable isotopically labelled glucose in longitudinal studies in mice

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

Evidence for increased synthesis of lipoprotein(a) in the nephrotic syndrome

Hepatic de Novo Synthesis of Glucose 6-Phosphate Is Not Affected in Peroxisome Proliferator-activated Receptor α-Deficient Mice but Is Preferentially Directed toward Hepatic Glycogen Stores after a Short Term Fast

Resting oxygen consumption and in vivo ADP are increased in myopathy due to complex I deficiency

Increased VLDL in nephrotic patients results from a decreased catabolism while increased LDL results from increased synthesis

A patient with acute liver failure and extreme hypoglycaemia with lactic acidosis who was not in a coma: causes and consequences of lactate-protected hypoglycaemia

Proportionate increase of fibrinogen and albumin synthesis in nephrotic patients: Measurements with stable isotopes

Plasma phenylalanine in patients with phenylketonuria self-managing their diet

Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency

Plasma folic acid cutoff value, derived from its relationship with homocyst(e)ine

Fatty acid and amino acid modulation of glucose cycling in isolated rat hepatocytes

Low diagnostic value of fasting and post-methionine load homocysteine tests. A study in Dutch subjects with homocysteine test indications

Xanthinuria in a family of Cavalier king Charles Spaniels

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

High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment?

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