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Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation

Clinical chemistry (Baltimore, Md.), 1993-03, Vol.39 (3), p.380-385

1993

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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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A Pivotal Role for β-Aminoisobutyric Acid and Oxidative Stress in Dihydropyrimidine Dehydrogenase Deficiency?

Nucleosides, nucleotides & nucleic acids, 2006-06, Vol.25 (9-11), p.1103-1106

2006

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The detection of molybdenum cofactor deficiency: Clinical symptomatology and urinary metabolite profile

Journal of inherited metabolic disease, 1994-01, Vol.17 (1), p.142-145

1994

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Simultaneous determination of acidic 3,4-dihydroxyphenylalanine metabolites and 5-hydroxyindole-3-acetic acid in urine by high-performance liquid chromatography

Clinical chemistry (Baltimore, Md.), 1990-10, Vol.36 (10), p.1834-1837

1990

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No circadian variation of dihydropyrimidine dehydrogenase, uridine phosphorylase, beta-alanine, and 5-fluorouracil during continuous infusion of 5-fluorouracil

Advances in experimental medicine and biology, 1998, Vol.431, p.811

1998

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ß-Alanine and ß-Aminoisobutyric Acid Levels in Two Siblings With Dihydropyrimidinase Deficiency

Nucleosides, nucleotides & nucleic acids, 2008-07, Vol.27 (6-7), p.825-829

2008

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Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency

Nucleosides, nucleotides & nucleic acids, 2008-06, Vol.27 (6), p.825-829

2008

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s-Alanine and s-Aminoisobutyric Acid Levels in Two Siblings With Dihydropyrimidinase Deficiency

Nucleosides, nucleotides & nucleic acids, 2008-06, Vol.27 (6-7), p.825-829

2008

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Simultaneous determination of F-β-alanine and β-alanine in plasma and urine with dual-column reversed-phase high-performance liquid chromatography

Journal of chromatography. B, Biomedical sciences and applications, 2001-08, Vol.759 (1), p.51-61

2001

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Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.159-164

2011

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β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities

Human molecular genetics, 2004-11, Vol.13 (22), p.2793-2801

2004

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New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?

Biochemical journal, 2004-04, Vol.379 (Pt 1), p.119-124

2004

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Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency

Molecular genetics and metabolism, 2003-08, Vol.79 (4), p.281-287

2003

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Does Trade Openness Affect the Speed of Output Convergence? Some Empirical Evidence

Empirical economics, 2006-12, Vol.31 (4), p.883-903

2006

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Real Output Convergence and Trade Openness: Fuzzy Clustering and Time Series Evidence

The International trade journal, 2008-04, Vol.22 (2), p.115-155

2008

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Effects of small- and large-scale structures in a piloted jet diffusion flame

Flow, turbulence and combustion, 1999, Vol.62 (1), p.53-68

1999

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Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency

Advances in experimental medicine and biology, 1994, Vol.370, p.375

1994

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The effects of computer simulated facial plastic surgery on social perception by others

Clinical otolaryngology, 1998-04, Vol.23 (2), p.141

1998

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The effects of computer simulated facial plastic surgery on social perception by others

Clinical otolaryngology and allied sciences, 1998-04, Vol.23 (2), p.141-147

1998

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Low-field optically detected magnetic resonance of a coupled triplet-doublet defect pair in diamond

Physical review. B, Condensed matter, 1990-11, Vol.42 (13B), p.8605-8608

1990

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Simple method for the quantitative analysis of dihydropyrimidines and N-carbamyl-beta-amino acids in urine

Advances in experimental medicine and biology, 1991, Vol.309B, p.15

1991

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Comparative experimental and numerical investigation of a piloted turbulent natural-gas diffusion flame

Symposium, International, on Combustion, 1994, Vol.25 (1), p.1241-1248

1994

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Regionalized home care in a rural area

The Journal of ambulatory care management, 1980-08, Vol.3 (3), p.87-98

1980

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Application of simple chromatographic methods for the diagnosis of defects in pyrimidine degradation

Clinical and biochemical findings in six patients with pyrimidine degradation defects

A Pivotal Role for β-Aminoisobutyric Acid and Oxidative Stress in Dihydropyrimidine Dehydrogenase Deficiency?

The detection of molybdenum cofactor deficiency: Clinical symptomatology and urinary metabolite profile

Simultaneous determination of acidic 3,4-dihydroxyphenylalanine metabolites and 5-hydroxyindole-3-acetic acid in urine by high-performance liquid chromatography

No circadian variation of dihydropyrimidine dehydrogenase, uridine phosphorylase, beta-alanine, and 5-fluorouracil during continuous infusion of 5-fluorouracil

ß-Alanine and ß-Aminoisobutyric Acid Levels in Two Siblings With Dihydropyrimidinase Deficiency

Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency

s-Alanine and s-Aminoisobutyric Acid Levels in Two Siblings With Dihydropyrimidinase Deficiency

Simultaneous determination of F-β-alanine and β-alanine in plasma and urine with dual-column reversed-phase high-performance liquid chromatography

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment

β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities

New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid?

Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency

Does Trade Openness Affect the Speed of Output Convergence? Some Empirical Evidence

Real Output Convergence and Trade Openness: Fuzzy Clustering and Time Series Evidence

Effects of small- and large-scale structures in a piloted jet diffusion flame

Effect of allopurinol on the xanthinuria in a patient with molybdenum cofactor deficiency

The effects of computer simulated facial plastic surgery on social perception by others

The effects of computer simulated facial plastic surgery on social perception by others

Low-field optically detected magnetic resonance of a coupled triplet-doublet defect pair in diamond

Simple method for the quantitative analysis of dihydropyrimidines and N-carbamyl-beta-amino acids in urine

Comparative experimental and numerical investigation of a piloted turbulent natural-gas diffusion flame

Regionalized home care in a rural area

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