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Results:
1-18
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Results: 18
Authors:
GOODMAN SI
STEIN DE
SCHLESINGER S
CHRISTENSEN E
SCHWARTZ M
GREENBERG CR
ELPELEG ON
Citation: Si. Goodman et al., GLUTARYL-COA DEHYDROGENASE MUTATIONS IN GLUTARIC ACIDEMIA (TYPE-I) - REVIEW AND REPORT OF 30 NOVEL MUTATIONS, Human mutation, 12(3), 1998, pp. 141-144
Authors:
BARIC I
ZSCHOCKE J
CHRISTENSEN E
DURAN M
GOODMAN SI
LEONARD JV
MULLER E
MORTON DH
SUPERTIFURGA A
HOFFMANN GF
Citation: I. Baric et al., DIAGNOSIS AND MANAGEMENT OF GLUTARIC ACIDURIA TYPE-I, Journal of inherited metabolic disease, 21(4), 1998, pp. 326-340
Authors:
GOODMAN SI
ELSAS LJ
ROSENBLATT DS
Citation: Si. Goodman et al., ASHG ACMG STATEMENT - MEASUREMENT AND USE OF TOTAL PLASMA HOMOCYSTEINE/, American journal of human genetics, 63(5), 1998, pp. 1541-1543
Authors:
GREENE CL
GOODMAN SI
Citation: Cl. Greene et Si. Goodman, CATASTROPHIC METABOLIC ENCEPHALOPATHIES IN THE NEWBORN PERIOD - EVALUATION AND MANAGEMENT, Clinics in perinatology, 24(4), 1997, pp. 773
Authors:
HOWARD R
FRIEDEN IJ
CRAWFORD D
MCCALMONT T
LEVY ML
ROSENBLATT DS
SWEETMAN L
GOODMAN SI
OHNSTAD C
HART K
BERRIOS M
PACKMAN S
Citation: R. Howard et al., METHYLMALONIC ACIDEMIA, COBALAMIN-C TYPE, PRESENTING WITH CUTANEOUS MANIFESTATIONS, Archives of dermatology, 133(12), 1997, pp. 1563-1566
Authors:
SCHLESINGER SR
STEIN DE
OZAND P
GOODMAN SI
Citation: Sr. Schlesinger et al., IN-VITRO EXPRESSION OF GLUTARIC ACIDURIA TYPE-1 MUTATIONS IN ESCHERICHIA-COLI, American journal of human genetics, 61(4), 1997, pp. 1050-1050
Authors:
BIERY BJ
STEIN DE
MORTON DH
GOODMAN SI
Citation: Bj. Biery et al., GENE STRUCTURE AND MUTATIONS OF GLUTARYL-COENZYME A DEHYDROGENASE - IMPAIRED ASSOCIATION OF ENZYME SUBUNITS THAT IS DUE TO AN A421V SUBSTITUTION CAUSES GLUTARIC ACIDEMIA TYPE-I IN THE AMISH, American journal of human genetics, 59(5), 1996, pp. 1006-1011
Authors:
GOODMAN SI
KRATZ LE
DIGIULIO KA
BIERY BJ
GOODMAN KE
ISAYA G
FRERMAN FE
Citation: Si. Goodman et al., CLONING OF GLUTARYL-COA DEHYDROGENASE CDNA, AND EXPRESSION OF WILD-TYPE AND MUTANT ENZYMES IN ESCHERICHIA-COLI, Human molecular genetics, 4(9), 1995, pp. 1493-1498
Authors:
GREENBERG CR
REIMER D
SINGAL R
TRIGGSRAINE B
CHUDLEY AE
DILLING LA
PHILIPPS S
HAWORTH JC
SEARGEANT LE
GOODMAN SI
Citation: Cr. Greenberg et al., A G-TO-T TRANSVERSION AT THE -POSITION OF INTRON-1 IN THE GLUTARYL COA DEHYDROGENASE GENE IS ASSOCIATED WITH THE ISLAND LAKE VARIANT OF GLUTARIC ACIDEMIA TYPE-I(5), Human molecular genetics, 4(3), 1995, pp. 493-495
Authors:
BEARD SE
GOODMAN SI
BEMELEN K
FRERMAN FE
Citation: Se. Beard et al., CHARACTERIZATION OF A MUTATION THAT ABOLISHES QUINONE REDUCTION BY ELECTRON-TRANSFER FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE, Human molecular genetics, 4(2), 1995, pp. 157-161
Authors:
KOELLER DM
DIGIULIO KA
ANGELONI SV
DOWLER LL
FRERMAN FE
WHITE RA
GOODMAN SI
Citation: Dm. Koeller et al., CLONING, STRUCTURE, AND CHROMOSOME LOCALIZATION OF THE MOUSE GLUTARYL-COA DEHYDROGENASE GENE, Genomics, 28(3), 1995, pp. 508-512
Authors:
GOODMAN SI
STEIN DE
BIERY BJ
FRERMAN FE
MORTON DH
Citation: Si. Goodman et al., GLUTARIC ACIDEMIA IN THE AMISH IS DUE TO AN A421V MUTATION IN THE ACTIVE-SITE GLUTARYL-COA DEHYDROGENASE, Pediatric research, 37(4), 1995, pp. 148-148
Authors:
HAWORTH JC
SINGAL R
GOODMAN SI
GREENBERG CR
Citation: Jc. Haworth et al., TAQI POLYMORPHISM IN INTRON-2 OF THE GCDH GENE, Human molecular genetics, 3(4), 1994, pp. 678-678
Authors:
GREENBERG CR
DUNCAN AMV
GREGORY CA
SINGAL R
GOODMAN SI
Citation: Cr. Greenberg et al., ASSIGNMENT OF HUMAN GLUTARYL-COA DEHYDROGENASE GENE (GCDH) TO THE SHORT ARM OF CHROMOSOME-19 (19P13.2) BY IN-SITU HYBRIDIZATION AND SOMATIC-CELL HYBRID ANALYSIS, Genomics, 21(1), 1994, pp. 289-290
Authors:
HERRICK KR
SALAZAR D
GOODMAN SI
FINOCCHIARO G
BEDZYK LA
FRERMAN FE
Citation: Kr. Herrick et al., EXPRESSION AND CHARACTERIZATION OF HUMAN AND CHIMERIC HUMAN PARACOCCUS-DENITRIFICANS ELECTRON-TRANSFER FLAVOPROTEINS, The Journal of biological chemistry, 269(51), 1994, pp. 32239-32245
Authors:
GOODMAN SI
AXTELL KM
BINDOFF LA
BEARD SE
GILL RE
FRERMAN FE
Citation: Si. Goodman et al., MOLECULAR-CLONING AND EXPRESSION OF A CDNA-ENCODING HUMAN ELECTRON-TRANSFER FLAVOPROTEIN-UBIQUINONE OXIDOREDUCTASE, European journal of biochemistry, 219(1-2), 1994, pp. 277-286
Authors:
BEARD SE
FRERMAN FE
GOODMAN SI
Citation: Se. Beard et al., ELECTRON-TRANSFER FLAVOPROTEIN - UBIQUINONE OXIDOREDUCTASE FUNCTIONALDOMAINS DEFINED BY EXPRESSION OF A HUMAN MUTATION, Clinical research, 42(1), 1994, pp. 10000008-10000008
Authors:
ARNOLD GL
GREENE CL
STOUT JP
GOODMAN SI
Citation: Gl. Arnold et al., MOLYBDENUM COFACTOR DEFICIENCY, The Journal of pediatrics, 123(4), 1993, pp. 595-598
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