UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

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

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

2003

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration

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

2004

Volltextzugriff (PDF)

Tetrahydrobiopterin Is a Secretory Product of Murine Vascular Endothelial Cells

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

1994

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

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

2005

Volltextzugriff (PDF)

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

European journal of pediatrics, 1993-08, Vol.152 (8), p.655-661

1993

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes

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

1993

Volltextzugriff (PDF)

Importance of CSF in the diagnosis of Pediatric Neurotransmitter Disorders and Cerebral Folate Deficiency (CFD)

Neuropediatrics, 2005, Vol.36 (2)

2005

Volltextzugriff (PDF)

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

Neurology, 2003-09, Vol.61 (5), p.642-647

2003

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: Loading tests with pterin derivatives

Journal of inherited metabolic disease, 1992-05, Vol.15 (3), p.409-412

1992

Volltextzugriff (PDF)

Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia

The Journal of pediatrics, 1989-10, Vol.115 (4), p.661-662

1989

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

A case of 6‐pyruvoyl‐tetrahydropterin synthase deficiency after screening 1 500 000 newborns in Greece

Journal of inherited metabolic disease, 1991-09, Vol.14 (5), p.845-846

1991

Volltextzugriff (PDF)

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

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

1998

Volltextzugriff (PDF)

Prenatal Diagnosis of Atypical Phenylketonuria

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

1989

Volltextzugriff (PDF)

Genetic evidence for fetal origin of transcobalamin II in human cord blood

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

1983

Volltextzugriff (PDF)

Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy

Pteridines, 1991-02, Vol.3 (1-2), p.19-21

1991

Volltextzugriff (PDF)

Bone marrow participates in the biosynthesis of human transcobalamin II

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

1980

Volltextzugriff (PDF)

Bone Marrow Participates in the Biosynthesis of Human Transcobalamin II

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

1980

Volltextzugriff (PDF)

Systemic Tetrahydrobiopterin (BH4) Levels and Coronary Artery Disease

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

2000

Volltextzugriff (PDF)

Tetrahydrobiopterin Loading Test in Xanthine Dehydrogenase and Molybdenum Cofactor Deficiencies

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

1996

Volltextzugriff (PDF)

1 – 25 von 38

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(33)
Mit Volltextzugriff
(33)

Publikationsform

Sprache

Englisch
(37)
Deutsch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

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

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

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

Importance of CSF in the diagnosis of Pediatric Neurotransmitter Disorders and Cerebral Folate Deficiency (CFD)

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

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

Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: Loading tests with pterin derivatives

Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia

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)

A case of 6‐pyruvoyl‐tetrahydropterin synthase deficiency after screening 1 500 000 newborns in Greece

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

Prenatal Diagnosis of Atypical Phenylketonuria

Genetic evidence for fetal origin of transcobalamin II in human cord blood

Prenatal Diagnosis of Dihydropteridine Reductase Deficiency in a Twin Pregnancy

Bone marrow participates in the biosynthesis of human transcobalamin II

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

Suchergebnisse filtern