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Results: 1-7 |
Results: 7
MUTATIONS OF THE FLAVIN-CONTAINING MONOOXYGENASE GENE (FMO3) CAUSE TRIMETHYLAMINURIA, A DEFECT IN DETOXICATION
Authors: TREACY EP AKERMAN BR CHOW LML YOUIL R BIBEAU C LIN J BRUCE AG KNIGHT M DANKS DM CASHMAN JR FORREST SM
Citation: Ep. Treacy et al., MUTATIONS OF THE FLAVIN-CONTAINING MONOOXYGENASE GENE (FMO3) CAUSE TRIMETHYLAMINURIA, A DEFECT IN DETOXICATION, Human molecular genetics, 7(5), 1998, pp. 839-845
COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE A104D MUTANT, ASSOCIATED WITH VARIANT PHENYLKETONURIA, AND WILD-TYPE ENZYME
Authors: WATERS PJ HEWSON AS SCRIVER CR TREACY EP MARTINEZ A KNAPPSKOG PM PARNIAK MA
Citation: Pj. Waters et al., COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE A104D MUTANT, ASSOCIATED WITH VARIANT PHENYLKETONURIA, AND WILD-TYPE ENZYME, Biochemical Society transactions, 25(2), 1997, pp. 362-362
ANALYSIS OF PHENYLALANINE-HYDROXYLASE GENOTYPES AND HYPERPHENYLALANINEMIA PHENOTYPES USING L-[1-C-13]PHENYLALANINE OXIDATION RATES IN-VIVO - A PILOT-STUDY
Authors: TREACY EP DELENTE JJ ELKAS G CARTER K LAMBERT M WATERS PJ SCRIVER CR
Citation: Ep. Treacy et al., ANALYSIS OF PHENYLALANINE-HYDROXYLASE GENOTYPES AND HYPERPHENYLALANINEMIA PHENOTYPES USING L-[1-C-13]PHENYLALANINE OXIDATION RATES IN-VIVO - A PILOT-STUDY, Pediatric research, 42(4), 1997, pp. 430-435
MUTATIONS IN THE FLAVIN-CONTAINING MONOOXYGENASE FORM-3 (FMO3) GENE CAUSE TRIMETHYLAMINURIA, FISH ODOR SYNDROME
Authors: AKERMAN BR CHOW L FORREST S YOUIL R CASHMAN J TREACY EP
Citation: Br. Akerman et al., MUTATIONS IN THE FLAVIN-CONTAINING MONOOXYGENASE FORM-3 (FMO3) GENE CAUSE TRIMETHYLAMINURIA, FISH ODOR SYNDROME, American journal of human genetics, 61(4), 1997, pp. 281-281
ANALYSIS OF THE [C.470G-]A-C.471A-]C] (R157N) MUTATION IN HUMAN PHENYLALANINE-HYDROXYLASE BY IN-VITRO PROTEIN EXPRESSION IN 3 SYSTEMS - CORRELATION WITH IN-VIVO PHENYLALANINE OXIDATION AND PHENYLKETONURIA PHENOTYPE
Authors: WATERS PJ HEWSON AS PARNIAK MA CARTER K KAYAALP E LAFRAMBOISE R TREACY EP SCRIVER CR
Citation: Pj. Waters et al., ANALYSIS OF THE [C.470G-]A-C.471A-]C] (R157N) MUTATION IN HUMAN PHENYLALANINE-HYDROXYLASE BY IN-VITRO PROTEIN EXPRESSION IN 3 SYSTEMS - CORRELATION WITH IN-VIVO PHENYLALANINE OXIDATION AND PHENYLKETONURIA PHENOTYPE, American journal of human genetics, 61(4), 1997, pp. 1532-1532
IN-VIVO STUDIES OF C-13-PHENYLALANINE OXIDATION IN HYPERPHENYL-ALANINEMIA
Authors: TREACY EP DELENTE JJ ELKAS G CARTER K WATERS P SCRIVER CR
Citation: Ep. Treacy et al., IN-VIVO STUDIES OF C-13-PHENYLALANINE OXIDATION IN HYPERPHENYL-ALANINEMIA, Pediatric research, 39(4), 1996, pp. 876-876
CHARACTERIZATION OF PHENYLALANINE-HYDROXYLASE ALLELES IN UNTREATED PHENYLKETONURIA PATIENTS FROM VICTORIA, AUSTRALIA - ORIGIN OF ALLELES AND HAPLOTYPES
Authors: RAMUS SJ TREACY EP COTTON RGH
Citation: Sj. Ramus et al., CHARACTERIZATION OF PHENYLALANINE-HYDROXYLASE ALLELES IN UNTREATED PHENYLKETONURIA PATIENTS FROM VICTORIA, AUSTRALIA - ORIGIN OF ALLELES AND HAPLOTYPES, American journal of human genetics, 56(5), 1995, pp. 1034-1041
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