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Dihydropyrimidinuria : a new inborn error of pyrimidine metabolism

Journal of inherited metabolic disease, 1991-05, Vol.14 (3), p.367-370

1991

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Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria: an inborn error of pyrimidine metabolism

Journal of inherited metabolic disease, 1985, Vol.8 (S2), p.113-114

1985

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Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency

The New England journal of medicine, 1977-03, Vol.296 (12), p.651-655

1977

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Dihydropyrimidinuria

The Lancet (British edition), 1990-09, Vol.336 (8718), p.817-818

1990

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Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy

Prenatal diagnosis, 1989-06, Vol.9 (6), p.401-407

1989

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Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism

Clinica chimica acta, 1984-08, Vol.141 (2), p.227-234

1984

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Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines

Clinica chimica acta, 1986-05, Vol.156 (3), p.279-287

1986

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Combined deficiency of xanthine oxidase and sulphite oxidase: A defect of molybdenum metabolism or transport?

Journal of inherited metabolic disease, 1978-12, Vol.1 (4), p.175-178

1978

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O-Phosphohydroxylysinuria: a new inborn error of metabolism?

Clinica chimica acta, 1990-05, Vol.188 (3), p.221-226

1990

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Selective screening for amino acid disorders

European journal of pediatrics, 1994, Vol.153 (7 Suppl 1), p.S33-S37

1994

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Azetidine-2-carboxylic acid contaminated dietary proline as a cause of urinary excretion of 4-amino-2-(S-cysteinyl)butyric acid in patients on oral treatment with a synthetic diet

Journal of chromatography, 1983-01, Vol.277, p.41-51

1983

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Fast-atom bombardment tandem mass spectrometry of phosphohydroxylysine and related phosphohydroxy amino acids

Rapid communications in mass spectrometry, 1989-03, Vol.3 (3), p.76-78

1989

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Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles

Advances in experimental medicine and biology, 1986, Vol.195 Pt A, p.21

1986

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Linear relationship between the R- and S-enantiomers of β-aminoisobutyric acid in human urine

Clinica chimica acta, 1981-11, Vol.116 (3), p.261-267

1981

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Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism

Clinica chimica acta, 1978-05, Vol.86 (1), p.7-20

1978

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New defects of pyrimidine metabolism

Advances in experimental medicine and biology, 1984, Vol.165 Pt A, p.109

1984

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Lanthionine detected in human urine

Clinica chimica acta, 1978-01, Vol.82 (3), p.281-284

1978

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Chromatographic determination and mass spectrometric identification of γ-glutamylphenylalanine, a urinary constituent in phenylketonuria

Clinica chimica acta, 1980-03, Vol.102 (2), p.137-145

1980

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Nϵ-(carboxymethyd)lysine, a constituent of human urine

Clinica chimica acta, 1975-03, Vol.59 (3), p.313-320

1975

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Gas chromatographic analysis of urinary volatile phenols in patients with gastro-intestinal disorders and normals

Clinica chimica acta, 1973-05, Vol.45 (4), p.341-347

1973

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Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency

Clinica chimica acta, 1979-05, Vol.93 (3), p.419-428

1979

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Sulfite oxidase deficiency and the detection of urinary sulfite

European journal of pediatrics, 1983-10, Vol.141 (1), p.62-63

1983

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Familial hyperlysinaemia due to L‐lysineα‐ketoglutarate reductase deficiency: Results of attempted treatment

Journal of inherited metabolic disease, 1978-09, Vol.1 (3), p.89-94

1978

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A patient with purine nucleoside phosphorylase deficiency: Enzymological and metabolic aspects

Clinica chimica acta, 1977-02, Vol.74 (3), p.271-279

1977

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A sensitive automatic determination of protein in urine serum and cerebrospinal fluid

Clinica chimica acta, 1971-05, Vol.32 (3), p.321-325

1971

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Dihydropyrimidinuria : a new inborn error of pyrimidine metabolism

Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria: an inborn error of pyrimidine metabolism

Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency

Dihydropyrimidinuria

Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy

Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism

Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines

Combined deficiency of xanthine oxidase and sulphite oxidase: A defect of molybdenum metabolism or transport?

O-Phosphohydroxylysinuria: a new inborn error of metabolism?

Selective screening for amino acid disorders

Azetidine-2-carboxylic acid contaminated dietary proline as a cause of urinary excretion of 4-amino-2-(S-cysteinyl)butyric acid in patients on oral treatment with a synthetic diet

Fast-atom bombardment tandem mass spectrometry of phosphohydroxylysine and related phosphohydroxy amino acids

Detection of inherited adenylosuccinase deficiency by two dimensional thin layer chromatography of urinary imidazoles

Linear relationship between the R- and S-enantiomers of β-aminoisobutyric acid in human urine

Two-dimensional thin-layer chromatography for the screening of disorders of purine and pyrimidine metabolism

New defects of pyrimidine metabolism

Lanthionine detected in human urine

Chromatographic determination and mass spectrometric identification of γ-glutamylphenylalanine, a urinary constituent in phenylketonuria

Nϵ-(carboxymethyd)lysine, a constituent of human urine

Gas chromatographic analysis of urinary volatile phenols in patients with gastro-intestinal disorders and normals

Urinary excretion of orotic acid, orotidine and other pyrimidines in a patient with purine nucleoside phosphorylase deficiency

Sulfite oxidase deficiency and the detection of urinary sulfite

Familial hyperlysinaemia due to L‐lysineα‐ketoglutarate reductase deficiency: Results of attempted treatment

A patient with purine nucleoside phosphorylase deficiency: Enzymological and metabolic aspects

A sensitive automatic determination of protein in urine serum and cerebrospinal fluid

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