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7 NOVEL MUTATIONS IN MUT METHYLMALONIC ACIDURIA
Authors: ADJALLA CE HOSACK AR GILFIX BM LAMOTHE E SUN S CHAN A EVANS S MATIASZUK NV ROSENBLATT DS
Citation: Ce. Adjalla et al., 7 NOVEL MUTATIONS IN MUT METHYLMALONIC ACIDURIA, Human mutation, 11(4), 1998, pp. 270-274
A COMMON MUTATION AMONG BLACKS WITH MUF METHYLMALONIC ACIDURIA
Authors: ADJALLA CE HOSACK AR MATIASZUK NV ROSENBLATT DS
Citation: Ce. Adjalla et al., A COMMON MUTATION AMONG BLACKS WITH MUF METHYLMALONIC ACIDURIA, Human mutation, 1998, pp. 248-250
METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY IN A PATIENT WITH PHENOTYPIC FINDINGS OF ANGELMAN-SYNDROME
Authors: ARN PH WILLIAMS CA ZORI RT DRISCOLL DJ ROSENBLATT DS
Citation: Ph. Arn et al., METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY IN A PATIENT WITH PHENOTYPIC FINDINGS OF ANGELMAN-SYNDROME, American journal of medical genetics, 77(3), 1998, pp. 198-200
CLONING AND MAPPING OF A CDNA FOR METHIONINE SYNTHASE REDUCTASE, A FLAVOPROTEIN DEFECTIVE IN PATIENTS WITH HOMOCYSTINURIA
Authors: LECLERC D WILSON A DUMAS R GAFUIK C SONG D WATKINS D HENG HHQ ROMMENS JM SCHERER SW ROSENBLATT DS GRAVEL RA
Citation: D. Leclerc et al., CLONING AND MAPPING OF A CDNA FOR METHIONINE SYNTHASE REDUCTASE, A FLAVOPROTEIN DEFECTIVE IN PATIENTS WITH HOMOCYSTINURIA, Proceedings of the National Academy of Sciences of the United Statesof America, 95(6), 1998, pp. 3059-3064
ASHG ACMG STATEMENT - MEASUREMENT AND USE OF TOTAL PLASMA HOMOCYSTEINE/
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
FUNCTIONALLY NULL MUTATIONS IN PATIENTS WITH THE CBLG-VARIANT FORM OFMETHIONINE SYNTHASE DEFICIENCY
Authors: WILSON A LECLERC D SABERI F CAMPEAU E HWANG HY SHANE B PHILLIPS JA ROSENBLATT DS GRAVEL RA
Citation: A. Wilson et al., FUNCTIONALLY NULL MUTATIONS IN PATIENTS WITH THE CBLG-VARIANT FORM OFMETHIONINE SYNTHASE DEFICIENCY, American journal of human genetics, 63(2), 1998, pp. 409-414
CORRELATION OF A COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE WITH PLASMA HOMOCYSTEINE IN PATIENTS WITH PREMATURE CORONARY-ARTERY DISEASE
Authors: CHRISTENSEN B FROSST P LUSSIERCACAN S SELHUB J GOYETTE P ROSENBLATT DS GENEST J ROZEN R
Citation: B. Christensen et al., CORRELATION OF A COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE WITH PLASMA HOMOCYSTEINE IN PATIENTS WITH PREMATURE CORONARY-ARTERY DISEASE, Arteriosclerosis, thrombosis, and vascular biology, 17(3), 1997, pp. 569-573
MUTATIONS IN MUT METHYLMALONIC ACIDEMIA - CLINICAL AND ENZYMATIC CORRELATIONS
Authors: LEDLEY FD ROSENBLATT DS
Citation: Fd. Ledley et Ds. Rosenblatt, MUTATIONS IN MUT METHYLMALONIC ACIDEMIA - CLINICAL AND ENZYMATIC CORRELATIONS, Human mutation, 9(1), 1997, pp. 1-6
MODULATION OF B-12 DOSAGE AND RESPONSE IN FETAL TREATMENT OF METHYLMALONIC ACIDURIA (MMA) - TITRATION OF TREATMENT DOSE TO SERUM AND URINE MMA
Authors: EVANS MI DUQUETTE DA RINALDO P BAWLE E ROSENBLATT DS WHITTY J QUINTERO RA JOHNSON MP
Citation: Mi. Evans et al., MODULATION OF B-12 DOSAGE AND RESPONSE IN FETAL TREATMENT OF METHYLMALONIC ACIDURIA (MMA) - TITRATION OF TREATMENT DOSE TO SERUM AND URINE MMA, Fetal diagnosis and therapy, 12(1), 1997, pp. 21-23
FUNCTIONAL METHIONINE SYNTHASE DEFICIENCY DUE TO CBLG DISORDER - A REPORT OF 2 PATIENTS AND A REVIEW
Authors: HARDING CO ARNOLD G BARNESS LA WOLFF JK ROSENBLATT DS
Citation: Co. Harding et al., FUNCTIONAL METHIONINE SYNTHASE DEFICIENCY DUE TO CBLG DISORDER - A REPORT OF 2 PATIENTS AND A REVIEW, American journal of medical genetics, 71(4), 1997, pp. 384-390
FOLATE-RESPONSIVE HOMOCYSTINURIA AND MEGALOBLASTIC-ANEMIA IN A FEMALE-PATIENT WITH FUNCTIONAL METHIONINE SYNTHASE DEFICIENCY (CBLE DISEASE)
Authors: FOWLER B SCHUTGENS RBH ROSENBLATT DS SMIT GPA LINDEMANS J
Citation: B. Fowler et al., FOLATE-RESPONSIVE HOMOCYSTINURIA AND MEGALOBLASTIC-ANEMIA IN A FEMALE-PATIENT WITH FUNCTIONAL METHIONINE SYNTHASE DEFICIENCY (CBLE DISEASE), Journal of inherited metabolic disease, 20(6), 1997, pp. 731-741
COBALAMIN-E (CBLE) DISEASE - A SEVERE NEUROLOGICAL DISORDER WITH MEGALOBLASTIC-ANEMIA, HOMOCYSTINURIA AND LOW SERUM METHIONINE
Authors: STEEN C ROSENBLATT DS SCHEYING H BRAEUER HC KOHLSCHUTTER A
Citation: C. Steen et al., COBALAMIN-E (CBLE) DISEASE - A SEVERE NEUROLOGICAL DISORDER WITH MEGALOBLASTIC-ANEMIA, HOMOCYSTINURIA AND LOW SERUM METHIONINE, Journal of inherited metabolic disease, 20(5), 1997, pp. 705-706
CLINICAL HETEROGENEITY AND PROGNOSIS IN COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA (CBLC)
Authors: ROSENBLATT DS ASPLER AL SHEVELL MI PLETCHER BA FENTON WA SEASHORE MR
Citation: Ds. Rosenblatt et al., CLINICAL HETEROGENEITY AND PROGNOSIS IN COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA (CBLC), Journal of inherited metabolic disease, 20(4), 1997, pp. 528-538
DEFECTS IN AUXILIARY REDOX PROTEINS LEAD TO FUNCTIONAL METHIONINE SYNTHASE DEFICIENCY
Authors: GULATI S CHEN ZQ BRODY LC ROSENBLATT DS BANERJEE R
Citation: S. Gulati et al., DEFECTS IN AUXILIARY REDOX PROTEINS LEAD TO FUNCTIONAL METHIONINE SYNTHASE DEFICIENCY, The Journal of biological chemistry, 272(31), 1997, pp. 19171-19175
NOVEL REDUCTANT FOR DETERMINATION OF TOTAL PLASMA HOMOCYSTEINE
Authors: GILFIX BM BLANK DW ROSENBLATT DS
Citation: Bm. Gilfix et al., NOVEL REDUCTANT FOR DETERMINATION OF TOTAL PLASMA HOMOCYSTEINE, Clinical chemistry, 43(4), 1997, pp. 687-688
METHYLMALONIC ACIDEMIA, COBALAMIN-C TYPE, PRESENTING WITH CUTANEOUS MANIFESTATIONS
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
RELATION BETWEEN THE C677T POLYMORPHISM IN THE MTHFR GENE, THE FOLATELEVELS IN RED-BLOOD-CELLS, AND RISK FOR NEURAL-TUBE DEFECTS
Authors: CHRISTENSEN B ARBOUR L TRAN P SABBAGHIAN N PLATT R GILFIX B ROSENBLATT DS FORBES P ROZEN R
Citation: B. Christensen et al., RELATION BETWEEN THE C677T POLYMORPHISM IN THE MTHFR GENE, THE FOLATELEVELS IN RED-BLOOD-CELLS, AND RISK FOR NEURAL-TUBE DEFECTS, American journal of human genetics, 61(4), 1997, pp. 854-854
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
CAUSAL MUTATIONS IN SIBLINGS WITH THE CBLG VARIANT FORM OF METHIONINESYNTHASE DEFICIENCY
Authors: WILSON A LECLERC D SABERI F PHILLIPS JA PFOTENHAUER JP ROSENBLATT DS GRAVEL RA
Citation: A. Wilson et al., CAUSAL MUTATIONS IN SIBLINGS WITH THE CBLG VARIANT FORM OF METHIONINESYNTHASE DEFICIENCY, American journal of human genetics, 61(4), 1997, pp. 1534-1534
HUMAN METHIONINE SYNTHASE - CDNA CLONING AND IDENTIFICATION OF MUTATIONS IN PATIENTS OF THE CBLG COMPLEMENTATION GROUP OF FOLATE COBALAMIN DISORDERS/
Authors: LECLERC D CAMPEAU E GOYETTE P ADJALLA CE CHRISTENSEN B ROSS M EYDOUX P ROSENBLATT DS ROZEN R GRAVEL RA
Citation: D. Leclerc et al., HUMAN METHIONINE SYNTHASE - CDNA CLONING AND IDENTIFICATION OF MUTATIONS IN PATIENTS OF THE CBLG COMPLEMENTATION GROUP OF FOLATE COBALAMIN DISORDERS/, Human molecular genetics, 5(12), 1996, pp. 1867-1874
UNSTABLE MESSENGER-RNA CAUSES TRANSCOBALAMIN-II (TC-II) DEFICIENCY
Authors: LI N ROSENBLATT DS SEETHARAM S SEETHARAM B
Citation: N. Li et al., UNSTABLE MESSENGER-RNA CAUSES TRANSCOBALAMIN-II (TC-II) DEFICIENCY, The FASEB journal, 10(6), 1996, pp. 908-908
FOLIC-ACID TO PREVENT NEURAL-TUBE DEFECTS - TIME FOR FOOD FORTIFICATION
Authors: ROSENBLATT DS FRASER FC ROY DJ
Citation: Ds. Rosenblatt et al., FOLIC-ACID TO PREVENT NEURAL-TUBE DEFECTS - TIME FOR FOOD FORTIFICATION, Clinical and investigative medicine, 19(3), 1996, pp. 202-203
NURTURING THE CLINICAL INVESTIGATOR - THE TASK CONTINUES
Authors: ROSENBLATT DS
Citation: Ds. Rosenblatt, NURTURING THE CLINICAL INVESTIGATOR - THE TASK CONTINUES, Clinical and investigative medicine, 19(1), 1996, pp. 55-58
NEW MUTATION IDENTIFIED IN 4 UNRELATED PATIENTS WITH METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY
Authors: CHRISTENSEN B GOYETTE P ALHENDY A ROSENBLATT DS ROZEN R
Citation: B. Christensen et al., NEW MUTATION IDENTIFIED IN 4 UNRELATED PATIENTS WITH METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY, Pediatric research, 39(4), 1996, pp. 843-843
GENETIC SCREENING FOR BREAST-CANCER
Authors: ROSENBLATT DS FOULKES WD NAROD SA
Citation: Ds. Rosenblatt et al., GENETIC SCREENING FOR BREAST-CANCER, The New England journal of medicine, 334(18), 1996, pp. 1200-1201
Risultati: 1-25 | 26-50 | 51-53