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Results: 1-16 |
Results: 16
MUTATION AT THE PHENYLALANINE-HYDROXYLASE GENE (PAH) AND ITS USE TO DOCUMENT POPULATION GENETIC-VARIATION - THE QUEBEC EXPERIENCE
Authors: CARTER KC BYCK S WATERS PJ RICHARDS B NOWACKI PM LAFRAMBOISE R LAMBERT M TREACY E SCRIVER CR
Citation: Kc. Carter et al., MUTATION AT THE PHENYLALANINE-HYDROXYLASE GENE (PAH) AND ITS USE TO DOCUMENT POPULATION GENETIC-VARIATION - THE QUEBEC EXPERIENCE, European journal of human genetics, 6(1), 1998, pp. 61-70
HUMAN FLAVIN-CONTAINING MONOOXYGENASE FORM-3 - CDNA EXPRESSION OF THEENZYMES CONTAINING AMINO-ACID SUBSTITUTIONS OBSERVED IN INDIVIDUALS WITH TRIMETHYLAMINURIA
Authors: CASHMAN JR BI YA LIN J YOUIL R KNIGHT M FORREST S TREACY E
Citation: Jr. Cashman et al., HUMAN FLAVIN-CONTAINING MONOOXYGENASE FORM-3 - CDNA EXPRESSION OF THEENZYMES CONTAINING AMINO-ACID SUBSTITUTIONS OBSERVED IN INDIVIDUALS WITH TRIMETHYLAMINURIA, Chemical research in toxicology, 10(8), 1997, pp. 837-841
PRENATAL-DIAGNOSIS FOR INBORN-ERRORS OF METABOLISM AND HEMOGLOBINOPATHIES - THE MONTREAL-CHILDRENS-HOSPITAL EXPERIENCE
Authors: SASI K SANDERSON D EYDOUX P CARTIER L SCRIVER CR TREACY E
Citation: K. Sasi et al., PRENATAL-DIAGNOSIS FOR INBORN-ERRORS OF METABOLISM AND HEMOGLOBINOPATHIES - THE MONTREAL-CHILDRENS-HOSPITAL EXPERIENCE, Prenatal diagnosis, 17(7), 1997, pp. 681-685
FASTING HYPOKETOTIC COMA IN A CHILD WITH DEFICIENCY OF MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE
Authors: THOMPSON GN HSU BYL PITT JJ TREACY E STANLEY CA
Citation: Gn. Thompson et al., FASTING HYPOKETOTIC COMA IN A CHILD WITH DEFICIENCY OF MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE, The New England journal of medicine, 337(17), 1997, pp. 1203-1207
HUMAN PHENYLALANINE-HYDROXYLASE MUTATIONS AND HYPERPHENYLALANINEMIA PHENOTYPES - A METANALYSIS OF GENOTYPE-PHENOTYPE CORRELATIONS
Authors: KAYAALP E TREACY E WATERS PJ BYCK S NOWACKI P SCRIVER CR
Citation: E. Kayaalp et al., HUMAN PHENYLALANINE-HYDROXYLASE MUTATIONS AND HYPERPHENYLALANINEMIA PHENOTYPES - A METANALYSIS OF GENOTYPE-PHENOTYPE CORRELATIONS, American journal of human genetics, 61(6), 1997, pp. 1309-1317
OUTCOME OF PATIENTS WITH LOW-MODERATE METHYLMALONIC ACIDURIA IN QUEBEC
Authors: SNIDERMAN LC LAMBERT M GIGUERE R ROSENBLATT DS AURAYBLAIS C LEMIEUX B SCRIVER CR LAFRAMBOISE R TREACY E
Citation: Lc. Sniderman et al., OUTCOME OF PATIENTS WITH LOW-MODERATE METHYLMALONIC ACIDURIA IN QUEBEC, American journal of human genetics, 61(4), 1997, pp. 1522-1522
PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY (PEHO SYNDROME)
Authors: SHEVELL MI COLANGELO P TREACY E POLOMENO RC ROSENBLATT B
Citation: Mi. Shevell et al., PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY (PEHO SYNDROME), Pediatric neurology, 15(4), 1996, pp. 337-339
IN-VIVO DISPOSAL OF PHENYLALANINE IN PHENYLKETONURIA - A STUDY OF 2 SIBLINGS
Authors: TREACY E PITT JJ SELLER K THOMPSON GN RAMUS S COTTON RGH
Citation: E. Treacy et al., IN-VIVO DISPOSAL OF PHENYLALANINE IN PHENYLKETONURIA - A STUDY OF 2 SIBLINGS, Journal of inherited metabolic disease, 19(5), 1996, pp. 595-602
GLUTATHIONE DEFICIENCY AS A COMPLICATION OF METHYLMALONIC ACIDEMIA - RESPONSE TO HIGH-DOSES OF ASCORBATE
Authors: TREACY E ARBOUR L CHESSEX P GRAHAM G KASPRZAK L CASEY K BELL L MAMER O SCRIVER CR
Citation: E. Treacy et al., GLUTATHIONE DEFICIENCY AS A COMPLICATION OF METHYLMALONIC ACIDEMIA - RESPONSE TO HIGH-DOSES OF ASCORBATE, The Journal of pediatrics, 129(3), 1996, pp. 445-448
TRANSLOCATION BETWEEN CHROMOSOME-6 AND CHROMOSOME-15 (45,XX,T(6-15)(Q25-Q11.2)) WITH FURTHER EVIDENCE FOR LACK OF IMPRINTING OF THE INSULIN-LIKE GROWTH-FACTOR-II MANNOSE-6-PHOSPHATE RECEPTOR IN HUMANS
Authors: TREACY E POLYCHRONAKOS C VEKEMANS M EYDOUX P BLAICHMAN S SCARPELLI H ROSS M XU YQ KALOUSTIAN VMD
Citation: E. Treacy et al., TRANSLOCATION BETWEEN CHROMOSOME-6 AND CHROMOSOME-15 (45,XX,T(6-15)(Q25-Q11.2)) WITH FURTHER EVIDENCE FOR LACK OF IMPRINTING OF THE INSULIN-LIKE GROWTH-FACTOR-II MANNOSE-6-PHOSPHATE RECEPTOR IN HUMANS, Journal of Medical Genetics, 33(1), 1996, pp. 42-46
TRIMETHYLAMINURIA, FISH ODOR SYNDROME - A NEW METHOD OF DETECTION ANDRESPONSE TO TREATMENT WITH METRONIDAZOLE
Authors: TREACY E JOHNSON D PITT JJ DANKS DM
Citation: E. Treacy et al., TRIMETHYLAMINURIA, FISH ODOR SYNDROME - A NEW METHOD OF DETECTION ANDRESPONSE TO TREATMENT WITH METRONIDAZOLE, Journal of inherited metabolic disease, 18(3), 1995, pp. 306-312
RESPONSE TO TREATMENT IN HEREDITARY METABOLIC DISEASE - 1993 SURVEY AND 10-YEAR COMPARISON
Authors: TREACY E CHILDS B SCRIVER CR
Citation: E. Treacy et al., RESPONSE TO TREATMENT IN HEREDITARY METABOLIC DISEASE - 1993 SURVEY AND 10-YEAR COMPARISON, American journal of human genetics, 56(2), 1995, pp. 359-367
RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS
Authors: EISENSMITH RC GOLTSOV AA ONEILL C TYFIELD LA SCHWARTZ EI KUZMIN AI BARANOVSKAYA SS TSUKERMAN GL TREACY E SCRIVER CR GUTTLER F GULDBERG P EIKEN HG APOLD J SVENSSON E NAUGHTEN E CAHALANE SF CROKE DT COCKBURN F WOO SLC
Citation: Rc. Eisensmith et al., RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS, American journal of human genetics, 56(1), 1995, pp. 278-286
DICARBOXYLIC ACIDURIA, SIGNIFICANCE AND PROGNOSTIC INDICATIONS
Authors: TREACY E PITT J EGGINGTON M HAWKINS R
Citation: E. Treacy et al., DICARBOXYLIC ACIDURIA, SIGNIFICANCE AND PROGNOSTIC INDICATIONS, European journal of pediatrics, 153(12), 1994, pp. 918-918
KETOTIC HYPOGLYCEMIA PRESENTING AS A LIFE-THREATENING SITUATION IN A CHILD WITH AMELIA
Authors: TREACY E DANKS DM
Citation: E. Treacy et Dm. Danks, KETOTIC HYPOGLYCEMIA PRESENTING AS A LIFE-THREATENING SITUATION IN A CHILD WITH AMELIA, European journal of pediatrics, 153(1), 1994, pp. 53-53
PHENYLKETONURIA, A CELTIC CONDITION, REVISITED
Authors: TREACY E
Citation: E. Treacy, PHENYLKETONURIA, A CELTIC CONDITION, REVISITED, Irish medical journal, 87(4), 1994, pp. 100-100
Risultati: 1-16 |