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Results: 1-12 |
Results: 12
RECENT DEVELOPMENTS IN THE DETECTION OF INHERITED DISORDERS OF MITOCHONDRIAL BETA-OXIDATION
Authors: BARTLETT K POURFARZAM M
Citation: K. Bartlett et M. Pourfarzam, RECENT DEVELOPMENTS IN THE DETECTION OF INHERITED DISORDERS OF MITOCHONDRIAL BETA-OXIDATION, Biochemical Society transactions, 26(2), 1998, pp. 145-152
ACYLCARNITINE ANALYSIS IN THE INVESTIGATION OF MYOPATHY
Authors: MOORE SJ HAITES NE BROOM I WHITE I COLEMAN RJ POURFARZAM M MORRIS AAM
Citation: Sj. Moore et al., ACYLCARNITINE ANALYSIS IN THE INVESTIGATION OF MYOPATHY, Journal of inherited metabolic disease, 21(4), 1998, pp. 427-428
GLUTARIC ACIDURIA TYPE-2 PRESENTING AS A LIPID STORAGE MYOPATHY IN ANADULT
Authors: MOORE S HAITES NE BROOM I COLEMAN R MORRIS A POURFARZAM M TURNBULL DM
Citation: S. Moore et al., GLUTARIC ACIDURIA TYPE-2 PRESENTING AS A LIPID STORAGE MYOPATHY IN ANADULT, Journal of Medical Genetics, 34, 1997, pp. 542-542
NEW DEVELOPMENTS IN NEONATAL SCREENING
Authors: BARTLETT K EATON SJ POURFARZAM M
Citation: K. Bartlett et al., NEW DEVELOPMENTS IN NEONATAL SCREENING, Archives of Disease in Childhood, 77(2), 1997, pp. 151-154
MAMMALIAN MITOCHONDRIAL BETA-OXIDATION
Authors: EATON S BARTLETT K POURFARZAM M
Citation: S. Eaton et al., MAMMALIAN MITOCHONDRIAL BETA-OXIDATION, Biochemical journal, 320, 1996, pp. 345-357
THE EFFECT OF RESPIRATORY-CHAIN IMPAIRMENT ON BETA-OXIDATION IN RAT-HEART MITOCHONDRIA
Authors: EATON S POURFARZAM M BARTLETT K
Citation: S. Eaton et al., THE EFFECT OF RESPIRATORY-CHAIN IMPAIRMENT ON BETA-OXIDATION IN RAT-HEART MITOCHONDRIA, Biochemical journal, 319, 1996, pp. 633-640
IMPAIRED KETOGENESIS IN FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY - A PITFALL IN THE INVESTIGATION OF HYPOGLYCEMIA
Authors: MORRIS AAM DESHPANDE S WARDPLATT MP WHITFIELD AE AYNSLEYGREEN A LEONARD JV POURFARZAM M BARTLETT K
Citation: Aam. Morris et al., IMPAIRED KETOGENESIS IN FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY - A PITFALL IN THE INVESTIGATION OF HYPOGLYCEMIA, Journal of inherited metabolic disease, 18(1), 1995, pp. 28-32
FATTY-ACID OXIDATION IN PERIPHERAL-BLOOD CELLS - CHARACTERIZATION ANDUSE FOR THE DIAGNOSIS OF DEFECTS OF FATTY-ACID OXIDATION
Authors: SCHAEFER J POURFARZAM M BARTLETT K JACKSON S TURNBULL DM
Citation: J. Schaefer et al., FATTY-ACID OXIDATION IN PERIPHERAL-BLOOD CELLS - CHARACTERIZATION ANDUSE FOR THE DIAGNOSIS OF DEFECTS OF FATTY-ACID OXIDATION, Pediatric research, 37(3), 1995, pp. 354-360
NEONATAL HYPERAMMONEMIA CAUSED BY A DEFECT OF CARNITINE-ACYLCARNITINETRANSLOCASE
Authors: DEBAULNY HO SLAMA A TOUATI G TURNBULL DM POURFARZAM M BRIVET M
Citation: Ho. Debaulny et al., NEONATAL HYPERAMMONEMIA CAUSED BY A DEFECT OF CARNITINE-ACYLCARNITINETRANSLOCASE, The Journal of pediatrics, 127(5), 1995, pp. 723-728
EFFECTS OF ADDED L-CARNITINE, ACETYL-COA AND COA ON PEROXISOMAL BETA-OXIDATION OF [U-C-14]HEXADECANOATE BY ISOLATED PEROXISOMAL FRACTIONS
Authors: SLEBODA J POURFARZAM M BARTLETT K OSMUNDSEN H
Citation: J. Sleboda et al., EFFECTS OF ADDED L-CARNITINE, ACETYL-COA AND COA ON PEROXISOMAL BETA-OXIDATION OF [U-C-14]HEXADECANOATE BY ISOLATED PEROXISOMAL FRACTIONS, Biochimica et biophysica acta, L. Lipids and lipid metabolism, 1258(3), 1995, pp. 309-318
VERY LONG-CHAIN ACYL COENZYME-A DEHYDROGENASE-DEFICIENCY PRESENTING WITH EXERCISE-INDUCED MYOGLOBINURIA
Authors: OGILVIE I POURFARZAM M JACKSON S STOCKDALE C BARTLETT K TURNBULL DM
Citation: I. Ogilvie et al., VERY LONG-CHAIN ACYL COENZYME-A DEHYDROGENASE-DEFICIENCY PRESENTING WITH EXERCISE-INDUCED MYOGLOBINURIA, Neurology, 44(3), 1994, pp. 467-473
ANALYSIS OF FATTY-ACID OXIDATION INTERMEDIATES IN CULTURED FIBROBLASTS TO DETECT MITOCHONDRIAL OXIDATION DISORDERS
Authors: POURFARZAM M SCHAEFER J TURNBULL DM BARTLETT K
Citation: M. Pourfarzam et al., ANALYSIS OF FATTY-ACID OXIDATION INTERMEDIATES IN CULTURED FIBROBLASTS TO DETECT MITOCHONDRIAL OXIDATION DISORDERS, Clinical chemistry, 40(12), 1994, pp. 2267-2275
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