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Results: 26-50/57
Authors:
HOANG L
BYCK S
PREVOST L
SCRIVER CR
Citation: L. Hoang et al., PAH MUTATION ANALYSIS CONSORTIUM DATABASE - A DATABASE FOR DISEASE-PRODUCING AND OTHER ALLELIC VARIATION AT THE HUMAN PAH LOCUS, Nucleic acids research, 24(1), 1996, pp. 127-131
Authors:
SCRIVER CR
Citation: Cr. Scriver, GENETIC SCREENING, TESTING AND TREATMENT - HOW FAR CAN WE GO, Journal of inherited metabolic disease, 19(4), 1996, pp. 401-411
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
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
Authors:
WATERS PJ
HEWSON AS
SCRIVER CR
MARTINEZ A
KNAPPSKOG PM
PARNIAK MA
Citation: Pj. Waters et al., COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE (PAH) A104D MUTANT,ASSOCIATED WITH VARIANT PHENYLKETONURIA (PKU) AND WILD-TYPE ENZYME, Immunology, 89, 1996, pp. 377-377
Authors:
LEDOUX P
SCRIVER CR
HECHTMAN P
Citation: P. Ledoux et al., EXPRESSION AND MOLECULAR ANALYSIS OF MUTATIONS IN PROLIDASE DEFICIENCY, American journal of human genetics, 59(5), 1996, pp. 1035-1039
Authors:
MITCHELL JJ
CAPUA A
CLOW C
SCRIVER CR
Citation: Jj. Mitchell et al., 20-YEAR OUTCOME ANALYSIS OF GENETIC SCREENING PROGRAMS FOR TAY-SACHS AND BETA-THALASSEMIA DISEASE CARRIERS IN HIGH-SCHOOLS, American journal of human genetics, 59(4), 1996, pp. 793-798
Authors:
SHEVELL MI
DIDOMENICANTONIO G
SYLVAIN M
ARNOLD DL
OGORMAN AM
SCRIVER CR
Citation: Mi. Shevell et al., GLUTARIC ACIDEMIA TYPE-II - NEUROIMAGING AND SPECTROSCOPY EVIDENCE FOR DEVELOPMENTAL ENCEPHALOMYOPATHY, Pediatric neurology, 12(4), 1995, pp. 350-353
Authors:
SCRIVER CR
Citation: Cr. Scriver, AMERICAN-PEDIATRIC-SOCIETY PRESIDENTIAL-ADDRESS 1995 - DISEASE, WAR, AND BIOLOGY - LANGUAGES FOR MEDICINE - AND PEDIATRICS, Pediatric research, 38(6), 1995, pp. 819-829
Authors:
SCRIVER CR
Citation: Cr. Scriver, WHATEVER HAPPENED TO PKU, Clinical biochemistry, 28(2), 1995, pp. 137-144
Authors:
HOANG L
BYCK S
CARTER K
PREVOST L
SCRIVER CR
Citation: L. Hoang et al., GENETIC GEOGRAPHY AND EVIDENCE FOR SELECTION, DRIFT, MIGRATION AND RECURRENT MUTATION AT THE PAH LOCUS IN HUMAN-POPULATIONS, American journal of human genetics, 57(4), 1995, pp. 210-210
Authors:
BYCK S
TYFIELD L
SCRIVER CR
Citation: S. Byck et al., ANALYSIS OF STR ALLELE SIZE AND VNTR SEQUENCE FOR DETERMINING RECURRENT PAH GENE-MUTATIONS - THE E280K EXAMPLE, American journal of human genetics, 57(4), 1995, pp. 914-914
Authors:
CARTER KC
ROZEN R
BYCK S
SCRIVER CR
Citation: Kc. Carter et al., NOVEL MUTATIONS AND HETEROGENEITY OF THE PHENYLALANINE-HYDROXYLASE (PAH) GENE ON QUEBEC PKU CHROMOSOMES, American journal of human genetics, 57(4), 1995, pp. 915-915
Authors:
LEDOUX P
SCRIVER CR
HECHTMAN P
Citation: P. Ledoux et al., EXPRESSION OF PROLIDASE MUTATIONS IN HETEROLOGOUS CELLS, American journal of human genetics, 57(4), 1995, pp. 1037-1037
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
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
Authors:
BYCK S
MORGAN K
TYFIELD L
DWORNICZAK B
SCRIVER CR
Citation: S. Byck et al., EVIDENCE FOR ORIGIN, BY RECURRENT MUTATION, OF THE PHENYLALANINE-HYDROXYLASE-R408W MUTATION ON 2 HAPLOTYPES IN EUROPEAN AND QUEBEC POPULATIONS, Human molecular genetics, 3(9), 1994, pp. 1675-1677
Authors:
SHEVELL MI
MATTHEWS PM
SCRIVER CR
BROWN RM
OTERO LJ
LEGRIS M
BROWN GK
ARNOLD DL
Citation: Mi. Shevell et al., CEREBRAL DYSGENESIS AND LACTIC ACIDEMIA - AN MRI MRS PHENOTYPE ASSOCIATED WITH PYRUVATE-DEHYDROGENASE DEFICIENCY/, Pediatric neurology, 11(3), 1994, pp. 224-229
Authors:
SYLVAIN M
ARNOLD DL
SCRIVER CR
SCHREIBER R
SHEVELL MI
Citation: M. Sylvain et al., MAGNETIC-RESONANCE SPECTROSCOPY IN NIEMANN-PICK DISEASE TYPE-C - CORRELATION WITH DIAGNOSIS AND CLINICAL-RESPONSE TO CHOLESTYRAMINE AND LOVASTATIN, Pediatric neurology, 10(3), 1994, pp. 228-232
Authors:
SCRIVER CR
Citation: Cr. Scriver, SCIENCE, MEDICINE AND PHENYLKETONURIA, Acta paediatrica, 83, 1994, pp. 11-18
Authors:
SCRIVER CR
EISENSMITH RC
WOO SLC
KAUFMAN S
Citation: Cr. Scriver et al., THE HYPERPHENYLALANINEMIAS OF MAN AND MOUSE, Annual review of genetics, 28, 1994, pp. 141-165
Authors:
MATTHEWS PM
BROWN RM
OTERO LJ
MARCHINGTON DR
LEGRIS M
HOWES R
MEADOWS LS
SHEVELL M
SCRIVER CR
BROWN GK
Citation: Pm. Matthews et al., PYRUVATE-DEHYDROGENASE DEFICIENCY - CLINICAL PRESENTATION AND MOLECULAR-GENETIC CHARACTERIZATION OF 5 NEW PATIENTS, Brain, 117, 1994, pp. 435-443
Authors:
ROZEN R
MASCISCH A
LAMBERT M
LAFRAMBOISE R
SCRIVER CR
Citation: R. Rozen et al., MUTATION PROFILES OF PHENYLKETONURIA IN QUEBEC POPULATIONS - EVIDENCEOF STRATIFICATION AND NOVEL MUTATIONS, American journal of human genetics, 55(2), 1994, pp. 321-326
Authors:
FUKAO T
YAMAGUCHI S
SCRIVER CR
DUNBAR G
WAKAZONO A
KANO M
ORII T
HASHIMOTO T
Citation: T. Fukao et al., MOLECULAR STUDIES OF MITOCHONDRIAL ACETOACETYL-COENZYME A THIOLASE DEFICIENCY IN THE 2 ORIGINAL FAMILIES, Human mutation, 2(3), 1993, pp. 214-220
Authors:
SCRIVER CR
Citation: Cr. Scriver, 1992 GENETICS-SOCIETY-OF-CANADA AWARD OF EXCELLENCE LECTURE - GENES, SCIENCE, AND SOCIETY, Genome, 36(4), 1993, pp. 631-640