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Results: 1-9 |
Results: 9
MUTATIONS IN THE PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE (PCBD) GENECAUSE A BENIGN FORM OF HYPERPHENYLALANINEMIA
Authors: THONY B NEUHEISER F KIERAT L ROLLAND MO GUIBAUD P SCHLUTER T GERMANN R HEIDENREICH RA DURAN M DEKLERK JBC AYLING JE BLAU N
Citation: B. Thony et al., MUTATIONS IN THE PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE (PCBD) GENECAUSE A BENIGN FORM OF HYPERPHENYLALANINEMIA, Human genetics, 103(2), 1998, pp. 162-167
INDUCTION OF TETRAHYDROBIOPTERIN SYNTHESIS IN HUMAN UMBILICAL VEIN SMOOTH-MUSCLE CELLS BY INFLAMMATORY STIMULI
Authors: WALTER R LINSCHEID P BLAU N KIERAT L SCHAFFNER A SCHOEDON G
Citation: R. Walter et al., INDUCTION OF TETRAHYDROBIOPTERIN SYNTHESIS IN HUMAN UMBILICAL VEIN SMOOTH-MUSCLE CELLS BY INFLAMMATORY STIMULI, Immunology letters, 60(1), 1998, pp. 13-17
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)
Authors: THONY B NEUHEISER F KIERAT L BLASKOVICS M ARN PH FERREIRA P REBRIN I AYLING J BLAU N
Citation: B. Thony et al., 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, 62(6), 1998, pp. 1302-1311
TETRAHYDROBIOPTERIN LOADING TEST IN XANTHINE DEHYDROGENASE AND MOLYBDENUM COFACTOR DEFICIENCIES
Authors: BLAU N DEKLERK JBC THONY B HEIZMANN CW KIERAT L SMEITINK JAM DURAN M
Citation: N. Blau et al., TETRAHYDROBIOPTERIN LOADING TEST IN XANTHINE DEHYDROGENASE AND MOLYBDENUM COFACTOR DEFICIENCIES, Biochemical and molecular medicine, 58(2), 1996, pp. 199-203
EFFECTS OF ACTIVATING AND DEACTIVATING CYTOKINES ON THE FUNCTIONALLY LINKED TETRAHYDROBIOPTERIN NO PATHWAYS IN VASCULAR SMOOTH-MUSCLE CELLS
Authors: WALTER R BLAU N KIERAT L SCHAFFNER A SCHOEDON G
Citation: R. Walter et al., EFFECTS OF ACTIVATING AND DEACTIVATING CYTOKINES ON THE FUNCTIONALLY LINKED TETRAHYDROBIOPTERIN NO PATHWAYS IN VASCULAR SMOOTH-MUSCLE CELLS, Immunology letters, 54(1), 1996, pp. 25-29
ANTENATAL DIAGNOSIS OF TETRAHYDROBIOPTERIN DEFICIENCY BY QUANTIFICATION OF PTERINS IN AMNIOTIC-FLUID AND ENZYME-ACTIVITY IN FETAL AND EXTRAFETAL TISSUE
Authors: BLAU N KIERAT L MATASOVIC A LEIMBACHER W HEIZMANN CW GUARDAMAGNA O PONZONE A
Citation: N. Blau et al., ANTENATAL DIAGNOSIS OF TETRAHYDROBIOPTERIN DEFICIENCY BY QUANTIFICATION OF PTERINS IN AMNIOTIC-FLUID AND ENZYME-ACTIVITY IN FETAL AND EXTRAFETAL TISSUE, Clinica chimica acta, 226(2), 1994, pp. 159-169
TETRAHYDROBIOPTERIN IS A SECRETORY PRODUCT OF MURINE VASCULAR ENDOTHELIAL-CELLS
Authors: WALTER R SCHAFFNER A BLAU N KIERAT L SCHOEDON G
Citation: R. Walter et al., TETRAHYDROBIOPTERIN IS A SECRETORY PRODUCT OF MURINE VASCULAR ENDOTHELIAL-CELLS, Biochemical and biophysical research communications, 203(3), 1994, pp. 1522-1526
DIFFERENTIAL-DIAGNOSIS OF HYPERPHENYLALANINEMIA BY A COMBINED PHENYLALANINE-TETRAHYDROBIOPTERIN LOADING TEST
Authors: PONZONE A GUARDAMAGNA O SPADA M FERRARIS S PONZONE R KIERAT L BLAU N
Citation: A. Ponzone et al., DIFFERENTIAL-DIAGNOSIS OF HYPERPHENYLALANINEMIA BY A COMBINED PHENYLALANINE-TETRAHYDROBIOPTERIN LOADING TEST, European journal of pediatrics, 152(8), 1993, pp. 655-661
HYPERPHENYLALANINEMIA AND PTERIN METABOLISM IN SERUM AND ERYTHROCYTES
Authors: PONZONE A GUARDAMAGNA O SPADA M PONZONE R SARTORE M KIERAT L HEIZMANN CW BLAU N
Citation: A. Ponzone et al., HYPERPHENYLALANINEMIA AND PTERIN METABOLISM IN SERUM AND ERYTHROCYTES, Clinica chimica acta, 216(1-2), 1993, pp. 63-71
Risultati: 1-9 |