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Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype

Neurology, 2003-09, Vol.61 (5), p.642

2003

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Diagnosis of Dopa-responsive Dystonia and Other Tetrahydrobiopterin Disorders by the Study of Biopterin Metabolism in Fibroblasts

Clinical chemistry (Baltimore, Md.), 2001-03, Vol.47 (3), p.477-485

2001

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Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

Molecular genetics and metabolism, 2004, Vol.81 (1), p.45-51

2004

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Tetrahydrobiopterin Is a Secretory Product of Murine Vascular Endothelial Cells

Biochemical and biophysical research communications, 1994-09, Vol.203 (3), p.1522-1526

1994

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Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

Human genetics, 1998-09, Vol.103 (2), p.162-167

1998

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Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

Molecular genetics and metabolism, 2005-12, Vol.86, p.96-103

2005

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Effects of activating and deactivating cytokines on the functionally linked tetrahydrobiopterin No pathways in vascular smooth muscle cells

Immunology letters, 1996-12, Vol.54 (1), p.25-29

1996

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Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue

Clinica chimica acta, 1994-05, Vol.226 (2), p.159-169

1994

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Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes

Clinica chimica acta, 1993-07, Vol.216 (1), p.63-71

1993

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Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper

Journal of inherited metabolic disease, 1992-05, Vol.15 (3), p.402-404

1992

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Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the PCBD Gene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transcriptional Coactivator (DCoH)

American journal of human genetics, 1998-06, Vol.62 (6), p.1302-1311

1998

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Induction of tetrahydrobiopterin synthesis in human umbilical vein smooth muscle cells by inflammatory stimuli

Immunology letters, 1998, Vol.60 (1), p.13-17

1998

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Prenatal Diagnosis of Atypical Phenylketonuria

Journal of inherited metabolic disease, 1989-01, Vol.12 (S2), p.295-298

1989

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Bone Marrow Participates in the Biosynthesis of Human Transcobalamin II

Blood, 1980-09, Vol.56 (3), p.560-563

1980

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Systemic Tetrahydrobiopterin (BH4) Levels and Coronary Artery Disease

Cardiology, 2000-01, Vol.94 (4), p.265-266

2000

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Tetrahydrobiopterin Loading Test in Xanthine Dehydrogenase and Molybdenum Cofactor Deficiencies

Biochemical and molecular medicine, 1996-08, Vol.58 (2), p.199-203

1996

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Pterins in patients with rett syndrome

American journal of medical genetics, 1986, Vol.25 (S1), p.317-321

1986

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Synthesis and secretion of the human vitamin B12-binding protein, transcobalamin II, by cultured skin fibroblasts and by bone marrow cells

Biochimica et biophysica acta, 1985-06, Vol.845 (3), p.421-427

1985

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Solid-phase immunoassay for the vitamin B12-binding protein transcobalamin II in human serum

Analytical biochemistry, 1982-07, Vol.124 (1), p.92-101

1982

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Genetic Evidence for Fetal Origin of Transcobalamin II in Human Cord Blood

Blood, 1983-07, Vol.62 (1), p.234-237

1983

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Indication against genetic localisation of the human transcobalamin II gene (TC2) on chromosome 16

Clinical genetics, 1986-05, Vol.29 (5), p.349-353

1986

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Allelic forms of mouse transcobalamin 2

Biochemical genetics, 1982-10, Vol.20 (9-10), p.1001-1014

1982

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Transcobalamin II, a serum protein reflecting autoimmune disease activity, its plasma dynamics, and the relationship to established serum parameters in systemic lupus erythematosus

Clinical immunology and immunopathology, 1985-01, Vol.36 (3), p.345-357

1985

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Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype

Diagnosis of Dopa-responsive Dystonia and Other Tetrahydrobiopterin Disorders by the Study of Biopterin Metabolism in Fibroblasts

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

Tetrahydrobiopterin Is a Secretory Product of Murine Vascular Endothelial Cells

Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia

Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

Effects of activating and deactivating cytokines on the functionally linked tetrahydrobiopterin No pathways in vascular smooth muscle cells

Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue

Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes

Screening for tetrahydrobiopterin deficiency in newborns using dried urine on filter paper

Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the PCBD Gene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transcriptional Coactivator (DCoH)

Induction of tetrahydrobiopterin synthesis in human umbilical vein smooth muscle cells by inflammatory stimuli

Prenatal Diagnosis of Atypical Phenylketonuria

Bone Marrow Participates in the Biosynthesis of Human Transcobalamin II

Systemic Tetrahydrobiopterin (BH4) Levels and Coronary Artery Disease

Tetrahydrobiopterin Loading Test in Xanthine Dehydrogenase and Molybdenum Cofactor Deficiencies

Pterins in patients with rett syndrome

Synthesis and secretion of the human vitamin B12-binding protein, transcobalamin II, by cultured skin fibroblasts and by bone marrow cells

Solid-phase immunoassay for the vitamin B12-binding protein transcobalamin II in human serum

Genetic Evidence for Fetal Origin of Transcobalamin II in Human Cord Blood

Indication against genetic localisation of the human transcobalamin II gene (TC2) on chromosome 16

Allelic forms of mouse transcobalamin 2

Transcobalamin II, a serum protein reflecting autoimmune disease activity, its plasma dynamics, and the relationship to established serum parameters in systemic lupus erythematosus

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