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Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

Biochimica et biophysica acta, 2010-07, Vol.1802 (7), p.639-648

2010

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Using calculated globulin fraction to reduce diagnostic delay in primary and secondary hypogammaglobulinaemias: results of a demonstration project

Annals of clinical biochemistry, 2015-05, Vol.52 (3), p.319-326

2015

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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

Pediatric research, 2001, Vol.49 (1), p.18-23

2001

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The effect of carnitine supplementation in valproate-induced hyperammonaemia

Acta Paediatrica, 1996-04, Vol.85 (4), p.446-449

1996

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Hyperinsulinaemic hypoglycaemia—Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency)

Journal of inherited metabolic disease, 2001-12, Vol.24 (8), p.858-862

2001

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False Diagnosis of Maple Syrup Urine Disease Owing to Ingestion of Herbal Tea

The New England journal of medicine, 1999-09, Vol.341 (10), p.769-769

1999

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Proton nuclear magnetic resonance spectroscopic detection of sialic acid storage disease

Clinical chemistry (Baltimore, Md.), 2002-02, Vol.48 (2), p.357-359

2002

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Antibiotic treatment-induced tubular dysfunction as a risk factor for renal stone formation in cystic fibrosis

The Journal of pediatrics, 2002-01, Vol.140 (1), p.103-109

2002

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4,5‐Dimethyl‐3‐hydroxy‐2[5H]‐furanone (sotolone) — The odour of maple syrup urine disease

Journal of inherited metabolic disease, 1999-04, Vol.22 (2), p.107-114

1999

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Simultaneous enantioselective analysis of chiral urinary metabolites in patients with Zellweger syndrome

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2003-07, Vol.792 (2), p.269-277

2003

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Multidimensional gas chromatography–mass spectrometry for tracer studies of fatty acid metabolism via stable isotopes in cultured human trophoblast cells

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2003-07, Vol.791 (1), p.235-244

2003

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Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease

Journal of lipid research, 1999-02, Vol.40 (2), p.221-228

1999

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Acceptance of extended newborn screening: the problem of parental non-compliance

European journal of pediatrics, 2004-12, Vol.163 (12), p.755-756

2004

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Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short‐chain acyl‐CoA dehydrogenase gene

Journal of inherited metabolic disease, 2003-07, Vol.26 (1), p.37-42

2003

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N-acetylaspartylglutamate in Canavan disease : an adverse effector?

European journal of pediatrics, 1999-05, Vol.158 (5), p.406-409

1999

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Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family

Journal of inherited metabolic disease, 1999-08, Vol.22 (6), p.756-758

1999

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Maternal plasma homocysteine, placenta status and docosahexaenoic acid concentration in erythrocyte phospholipids of the newborn

European journal of pediatrics, 1999-03, Vol.158 (3), p.243-246

1999

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Zidovudine and confusion in urinary metabolic screening

The Lancet (British edition), 1998-10, Vol.352 (9135), p.1227-1227

Sewell, Adrian C

1998

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Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides

Journal of inherited metabolic disease, 2003-01, Vol.26 (6), p.583-592

2003

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Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography–mass spectrometry

Clinica chimica acta, 2000-02, Vol.292 (1), p.93-105

2000

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Rapid enantiomeric differentiation of urinary metabolites in a patient with bacterial overgrowth syndrome

Clinical chemistry (Baltimore, Md.), 2000-09, Vol.46 (9), p.1444-1445

2000

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Chiral compounds in metabolism : a look in the molecular mirror

European journal of pediatrics, 1998-03, Vol.157 (3), p.185-191

1998

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Acylcarnitines in intermediary metabolism

European journal of pediatrics, 1995-11, Vol.154 (11), p.871-877

1995

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Mitochondrial acetoacetyl‐CoA thiolase (β‐ketothiolase) deficiency and pregnancy

Journal of inherited metabolic disease, 1998-06, Vol.21 (4), p.441-442

1998

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Selective screening for inborn errors of metabolism: the primary care‐based model in rural Crete

Journal of inherited metabolic disease, 2001-12, Vol.24 (8), p.877-880

2001

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Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients

Using calculated globulin fraction to reduce diagnostic delay in primary and secondary hypogammaglobulinaemias: results of a demonstration project

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

The effect of carnitine supplementation in valproate-induced hyperammonaemia

Hyperinsulinaemic hypoglycaemia—Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency)

False Diagnosis of Maple Syrup Urine Disease Owing to Ingestion of Herbal Tea

Proton nuclear magnetic resonance spectroscopic detection of sialic acid storage disease

Antibiotic treatment-induced tubular dysfunction as a risk factor for renal stone formation in cystic fibrosis

4,5‐Dimethyl‐3‐hydroxy‐2[5H]‐furanone (sotolone) — The odour of maple syrup urine disease

Simultaneous enantioselective analysis of chiral urinary metabolites in patients with Zellweger syndrome

Multidimensional gas chromatography–mass spectrometry for tracer studies of fatty acid metabolism via stable isotopes in cultured human trophoblast cells

Molecular defects underlying Wolman disease appear to be more heterogeneous than those resulting in cholesteryl ester storage disease

Acceptance of extended newborn screening: the problem of parental non-compliance

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short‐chain acyl‐CoA dehydrogenase gene

N-acetylaspartylglutamate in Canavan disease : an adverse effector?

Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family

Maternal plasma homocysteine, placenta status and docosahexaenoic acid concentration in erythrocyte phospholipids of the newborn

Zidovudine and confusion in urinary metabolic screening

Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides

Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography–mass spectrometry

Rapid enantiomeric differentiation of urinary metabolites in a patient with bacterial overgrowth syndrome

Chiral compounds in metabolism : a look in the molecular mirror

Acylcarnitines in intermediary metabolism

Mitochondrial acetoacetyl‐CoA thiolase (β‐ketothiolase) deficiency and pregnancy

Selective screening for inborn errors of metabolism: the primary care‐based model in rural Crete

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