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Results: 1-21 |
Results: 21
NOVEL MITOCHONDRIAL-DNA VARIANT THAT MAY GIVE A FALSE-POSITIVE DIAGNOSIS FOR THE T8993C MUTATION
Authors: WHITE SL THORBURN DR CHRISTODOULOU J DAHL HHM
Citation: Sl. White et al., NOVEL MITOCHONDRIAL-DNA VARIANT THAT MAY GIVE A FALSE-POSITIVE DIAGNOSIS FOR THE T8993C MUTATION, Molecular diagnosis, 3(2), 1998, pp. 113-117
RECURRENCE RISKS FOR MITOCHONDRIAL-DNA MUTATIONS AT NT8993
Authors: WHITE S COLLINS VR DAHL HHM THORBURN DR
Citation: S. White et al., RECURRENCE RISKS FOR MITOCHONDRIAL-DNA MUTATIONS AT NT8993, European journal of human genetics, 6, 1998, pp. 1074-1074
COMBINED MALONIC AND METHYLMALONIC ACIDURIA WITH NORMAL MALONYL-COENZYME-A DECARBOXYLASE ACTIVITY - A CASE SUPPORTING MULTIPLE ETIOLOGIES
Authors: GREGG AR WARMAN AW THORBURN DR OBRIEN WE
Citation: Ar. Gregg et al., COMBINED MALONIC AND METHYLMALONIC ACIDURIA WITH NORMAL MALONYL-COENZYME-A DECARBOXYLASE ACTIVITY - A CASE SUPPORTING MULTIPLE ETIOLOGIES, Journal of inherited metabolic disease, 21(4), 1998, pp. 382-390
A NEW CASE OF MALONYL COENZYME-A DECARBOXYLASE DEFICIENCY PRESENTING WITH CARDIOMYOPATHY
Authors: YANO S SWEETMAN L THORBURN DR MOFIDI S WILLIAMS JC
Citation: S. Yano et al., A NEW CASE OF MALONYL COENZYME-A DECARBOXYLASE DEFICIENCY PRESENTING WITH CARDIOMYOPATHY, European journal of pediatrics, 156(5), 1997, pp. 382-383
SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY - LOW EXCRETION OF METABOLITES IN A NEONATE
Authors: PITT JJ HAWKINS R CLEARY M EGGINGTON M THORBURN DR WARWICK L
Citation: Jj. Pitt et al., SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY - LOW EXCRETION OF METABOLITES IN A NEONATE, Journal of inherited metabolic disease, 20(1), 1997, pp. 39-42
MITOCHONDRIAL ELECTRON-TRANSPORT CHAIN DEFECT PRESENTING AS HYPOGLYCEMIA
Authors: FRECKMANN ML THORBURN DR KIRBY DM KAMATH KR HAMMOND J DENNETT X CHRISTODOULOU J
Citation: Ml. Freckmann et al., MITOCHONDRIAL ELECTRON-TRANSPORT CHAIN DEFECT PRESENTING AS HYPOGLYCEMIA, The Journal of pediatrics, 130(3), 1997, pp. 431-436
MITOCHONDRIAL MYOPATHY WITH TRNA(LEU(UUR)) MUTATION AND COMPLEX-I DEFICIENCY RESPONSIVE TO RIBOFLAVIN
Authors: OGLE RF CHRISTODOULOU J FAGAN E BLOK RB KIRBY DM SELLER KL DAHL HHM THORBURN DR
Citation: Rf. Ogle et al., MITOCHONDRIAL MYOPATHY WITH TRNA(LEU(UUR)) MUTATION AND COMPLEX-I DEFICIENCY RESPONSIVE TO RIBOFLAVIN, The Journal of pediatrics, 130(1), 1997, pp. 138-145
HIV-1 PROTEIN VPR CAUSES GROSS MITOCHONDRIAL DYSFUNCTION IN THE YEASTSACCHAROMYCES-CEREVISIAE
Authors: MACREADIE IG THORBURN DR KIRBY DM CASTELLI LA DEROZARIO NL AZAD AA
Citation: Ig. Macreadie et al., HIV-1 PROTEIN VPR CAUSES GROSS MITOCHONDRIAL DYSFUNCTION IN THE YEASTSACCHAROMYCES-CEREVISIAE, FEBS letters, 410(2-3), 1997, pp. 145-149
SERINE-PROTEASE INHIBITION AND MITOCHONDRIAL DYSFUNCTION ASSOCIATED WITH CISPLATIN RESISTANCE IN HUMAN TUMOR-CELL LINES - TARGETS FOR THERAPY
Authors: DONG Y BERNERSPRICE SJ THORBURN DR ANTALIS T DICKINSON J HURST T QIU L KHOO SK PARSONS PG
Citation: Y. Dong et al., SERINE-PROTEASE INHIBITION AND MITOCHONDRIAL DYSFUNCTION ASSOCIATED WITH CISPLATIN RESISTANCE IN HUMAN TUMOR-CELL LINES - TARGETS FOR THERAPY, Biochemical pharmacology, 53(11), 1997, pp. 1673-1682
DIAGNOSTIC-CRITERIA FOR RESPIRATORY-CHAIN DISORDERS IN PEDIATRIC-PATIENTS - CAN WE ESTABLISH CONSENSUS CRITERIA
Authors: BERNIER FP DENNETT X CHOW CW CLEARY MA BONEH A THORBURN DR
Citation: Fp. Bernier et al., DIAGNOSTIC-CRITERIA FOR RESPIRATORY-CHAIN DISORDERS IN PEDIATRIC-PATIENTS - CAN WE ESTABLISH CONSENSUS CRITERIA, American journal of human genetics, 61(4), 1997, pp. 1443-1443
SKEWED SEGREGATION OF THE MTDNA NT-8993 (T-]G) MUTATION IN HUMAN OOCYTES
Authors: BLOK RB GOOK DA THORBURN DR DAHL HHM
Citation: Rb. Blok et al., SKEWED SEGREGATION OF THE MTDNA NT-8993 (T-]G) MUTATION IN HUMAN OOCYTES, American journal of human genetics, 60(6), 1997, pp. 1495-1501
LEIGH-SYNDROME - CLINICAL-FEATURES AND BIOCHEMICAL AND DNA ABNORMALITIES
Authors: RAHMAN S BLOK RB DAHL HHM DANKS DM KIRBY DM CHOW CW CHRISTODOULOU J THORBURN DR
Citation: S. Rahman et al., LEIGH-SYNDROME - CLINICAL-FEATURES AND BIOCHEMICAL AND DNA ABNORMALITIES, Annals of neurology, 39(3), 1996, pp. 343-351
MTDNA DELETION IN A PATIENT WITH SYMPTOMS OF MITOCHONDRIAL CYTOPATHY BUT WITHOUT RAGGED-RED FIBERS
Authors: BLOK RB THORBURN DR DANKS DM DAHL HHM
Citation: Rb. Blok et al., MTDNA DELETION IN A PATIENT WITH SYMPTOMS OF MITOCHONDRIAL CYTOPATHY BUT WITHOUT RAGGED-RED FIBERS, Biochemical and molecular medicine, 56(1), 1995, pp. 26-30
A NOVEL MUTATION (P316L) IN A FEMALE WITH PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY
Authors: TAKAKUBO F THORBURN DR BROWN RM BROWN GK DAHL HHM
Citation: F. Takakubo et al., A NOVEL MUTATION (P316L) IN A FEMALE WITH PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY, Human mutation, 6(3), 1995, pp. 274-275
A TOPOISOMERASE-II CLEAVAGE SITE IS ASSOCIATED WITH A NOVEL MITOCHONDRIAL-DNA DELETION
Authors: BLOK RB THORBURN DR THOMPSON GN DAHL HHM
Citation: Rb. Blok et al., A TOPOISOMERASE-II CLEAVAGE SITE IS ASSOCIATED WITH A NOVEL MITOCHONDRIAL-DNA DELETION, Human genetics, 95(1), 1995, pp. 75-81
DIETARY MANIPULATION IN A PATIENT WITH COMBINED MALONIC AND METHYLMALONIC ACIDURIA
Authors: GREGG AR WARMAN AW ZERENGUE DE SHAPIRA SK THORBURN DR OBRIEN WE
Citation: Ar. Gregg et al., DIETARY MANIPULATION IN A PATIENT WITH COMBINED MALONIC AND METHYLMALONIC ACIDURIA, American journal of human genetics, 57(4), 1995, pp. 1023-1023
AN AMINO-ACID SUBSTITUTION IN THE PYRUVATE-DEHYDROGENASE E1-ALPHA GENE, AFFECTING MITOCHONDRIAL IMPORT OF THE PRECURSOR PROTEIN
Authors: TAKAKUBO F CARTWRIGHT P HOOGENRAAD N THORBURN DR COLLINS F LITHGOW T DAHL HHM
Citation: F. Takakubo et al., AN AMINO-ACID SUBSTITUTION IN THE PYRUVATE-DEHYDROGENASE E1-ALPHA GENE, AFFECTING MITOCHONDRIAL IMPORT OF THE PRECURSOR PROTEIN, American journal of human genetics, 57(4), 1995, pp. 772-780
A NOVEL MTDNA DELETION IN AN INFANT WITH PEARSON SYNDROME
Authors: KAPSA R THOMPSON GN THORBURN DR DAHL HHM MARZUKI S BYRNE E BLOK RB
Citation: R. Kapsa et al., A NOVEL MTDNA DELETION IN AN INFANT WITH PEARSON SYNDROME, Journal of inherited metabolic disease, 17(5), 1994, pp. 521-526
A NOVEL MUTATION AND A POLYMORPHISM IN THE X-CHROMOSOME LOCATED PYRUVATE-DEHYDROGENASE E1-ALPHA GENE (PDHA1)
Authors: TAKAKUBO F THORBURN DR DAHL HHM
Citation: F. Takakubo et al., A NOVEL MUTATION AND A POLYMORPHISM IN THE X-CHROMOSOME LOCATED PYRUVATE-DEHYDROGENASE E1-ALPHA GENE (PDHA1), Human molecular genetics, 2(11), 1993, pp. 1961-1962
A FLUOROMETRIC ASSAY FOR SUCCINIC SEMIALDEHYDE DEHYDROGENASE-ACTIVITYSUITABLE FOR PRENATAL-DIAGNOSIS OF THE ENZYME DEFICIENCY
Authors: THORBURN DR THOMPSON GN HOWELLS DW
Citation: Dr. Thorburn et al., A FLUOROMETRIC ASSAY FOR SUCCINIC SEMIALDEHYDE DEHYDROGENASE-ACTIVITYSUITABLE FOR PRENATAL-DIAGNOSIS OF THE ENZYME DEFICIENCY, Journal of inherited metabolic disease, 16(6), 1993, pp. 942-949
MALONYL COENZYME-A DECARBOXYLASE DEFICIENCY
Authors: MACPHEE GB LOGAN RW MITCHELL JS HOWELLS DW TSOTSIS E THORBURN DR
Citation: Gb. Macphee et al., MALONYL COENZYME-A DECARBOXYLASE DEFICIENCY, Archives of Disease in Childhood, 69(4), 1993, pp. 433-436
Risultati: 1-21 |