AAAAAA

   
Results: 1-9 |
Results: 9
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
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
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
PYRIDOXINE-RESPONSIVE GYRATE ATROPHY OF THE CHOROID AND RETINA - CLINICAL AND BIOCHEMICAL CORRELATES OF THE MUTATION A226V
Authors: MICHAUD J THOMPSON GN BRODY LC STEEL G OBIE C FONTAINE G SCHAPPERT K KEITH CG VALLE D MITCHELL GA
Citation: J. Michaud et al., PYRIDOXINE-RESPONSIVE GYRATE ATROPHY OF THE CHOROID AND RETINA - CLINICAL AND BIOCHEMICAL CORRELATES OF THE MUTATION A226V, American journal of human genetics, 56(3), 1995, pp. 616-622
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
PRODUCTION AND DISPOSAL OF MEDIUM-CHAIN FATTY-ACIDS IN CHILDREN WITH MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: HEALES SJR THOMPSON GN MASSOUD AF RAHMAN S HALLIDAY D LEONARD JV
Citation: Sjr. Heales et al., PRODUCTION AND DISPOSAL OF MEDIUM-CHAIN FATTY-ACIDS IN CHILDREN WITH MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 17(1), 1994, pp. 74-80
CONTRIBUTION OF ODD-CHAIN FATTY-ACID OXIDATION TO PROPIONATE PRODUCTION IN DISORDERS OF PROPIONATE METABOLISM
Authors: SBAI D NARCY C THOMPSON GN MARIOTTI A POGGI F SAUDUBRAY JM BRESSON JL
Citation: D. Sbai et al., CONTRIBUTION OF ODD-CHAIN FATTY-ACID OXIDATION TO PROPIONATE PRODUCTION IN DISORDERS OF PROPIONATE METABOLISM, The American journal of clinical nutrition, 59(6), 1994, pp. 1332-1337
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
STABLE-ISOTOPE DILUTION ANALYSIS OF GABA IN CSF USING SIMPLE SOLVENT-EXTRACTION AND ELECTRON-CAPTURE NEGATIVE-ION MASS FRAGMENTOGRAPHY
Authors: KOK RM HOWELLS DW VANDENHEUVEL CCM GUERAND WS THOMPSON GN JAKOBS C
Citation: Rm. Kok et al., STABLE-ISOTOPE DILUTION ANALYSIS OF GABA IN CSF USING SIMPLE SOLVENT-EXTRACTION AND ELECTRON-CAPTURE NEGATIVE-ION MASS FRAGMENTOGRAPHY, Journal of inherited metabolic disease, 16(3), 1993, pp. 508-512
Risultati: 1-9 |