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Results: 1-14 |
Results: 14
DEFICIENCY OF BIOTINYL-AMP SYNTHETASE-ACTIVITY IN FIBROBLASTS OF PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
Authors: MORITA J THUY LP SWEETMAN L
Citation: J. Morita et al., DEFICIENCY OF BIOTINYL-AMP SYNTHETASE-ACTIVITY IN FIBROBLASTS OF PATIENTS WITH HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, MOLECULAR GENETICS AND METABOLISM, 64(4), 1998, pp. 250-255
UNUSUAL ENZYME FINDINGS IN 5 PATIENTS WITH METABOLIC PROFILES SUGGESTIVE OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY (4-HYDROXYBUTYRIC ACIDURIA)
Authors: GIBSON KM SWEETMAN L KOZICH V PIJACKOVA A TSCHARRE A CORTEZ A EYSKENS F JAKOBS C DURAN M POLLTHE BT
Citation: Km. Gibson et al., UNUSUAL ENZYME FINDINGS IN 5 PATIENTS WITH METABOLIC PROFILES SUGGESTIVE OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY (4-HYDROXYBUTYRIC ACIDURIA), Journal of inherited metabolic disease, 21(3), 1998, pp. 255-261
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
MEVALONATE KINASE-DEFICIENCY IN A DIZYGOTIC TWIN WITH MILD MEVALONIC ACIDURIA
Authors: GIBSON KM HOFFMANN GF SWEETMAN L BUCKINGHAM B
Citation: Km. Gibson et al., MEVALONATE KINASE-DEFICIENCY IN A DIZYGOTIC TWIN WITH MILD MEVALONIC ACIDURIA, Journal of inherited metabolic disease, 20(3), 1997, pp. 391-394
AN UNUSUAL CASE OF MULTIPLE CARBOXYLASE DEFICIENCY PRESENTING AS GENERALIZED PUSTULAR PSORIASIS IN A CHINESE BOY
Authors: LAW LK LAU CY PANG CP LAM WY SWEETMAN L FOK TF HJELM M
Citation: Lk. Law et al., AN UNUSUAL CASE OF MULTIPLE CARBOXYLASE DEFICIENCY PRESENTING AS GENERALIZED PUSTULAR PSORIASIS IN A CHINESE BOY, Journal of inherited metabolic disease, 20(1), 1997, pp. 106-107
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
CLUSTERING OF MUTATIONS IN THE BIOTIN-BINDING REGION OF HOLOCARBOXYLASE SYNTHETASE IN BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY
Authors: DUPUIS L LEONDELRIO A LECLERC D CAMPEAU E SWEETMAN L SAUDUBRAY JM HERMAN G GIBSON KM GRAVEL RA
Citation: L. Dupuis et al., CLUSTERING OF MUTATIONS IN THE BIOTIN-BINDING REGION OF HOLOCARBOXYLASE SYNTHETASE IN BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY, Human molecular genetics, 5(7), 1996, pp. 1011-1016
NEWBORN SCREENING BY TANDEM MASS-SPECTROMETRY (MS-MS)
Authors: SWEETMAN L
Citation: L. Sweetman, NEWBORN SCREENING BY TANDEM MASS-SPECTROMETRY (MS-MS), Clinical chemistry, 42(3), 1996, pp. 345-346
D-2-HYDROXYGLUTARIC ACIDURIA
Authors: NYHAN WL SHELTON GD JAKOBS C HOLMES B BOWE C CURRY CJR VANCE C DURAN M SWEETMAN L
Citation: Wl. Nyhan et al., D-2-HYDROXYGLUTARIC ACIDURIA, Journal of child neurology, 10(2), 1995, pp. 137-142
3-HYDROXYISOVALERYLCARNITINE IN PATIENTS WITH DEFICIENCY OF 3-METHYLCROTONYL COA CARBOXYLASE
Authors: ROSCHINGER W MILLINGTON DS GAGE DA HUANG ZH IWAMOTO T YANO S PACKMAN S JOHNSTON K BERRY SA SWEETMAN L
Citation: W. Roschinger et al., 3-HYDROXYISOVALERYLCARNITINE IN PATIENTS WITH DEFICIENCY OF 3-METHYLCROTONYL COA CARBOXYLASE, Clinica chimica acta, 240(1), 1995, pp. 35-51
CUTANEOUS MANIFESTATIONS IN A NEONATE WITH COBALAMIN-C METHYLMALONIC ACIDEMIA
Authors: PACKMAN S HOWARD R FRIEDEN I CRAWFORD D ROSENBLATT D SWEETMAN L OHNSTAD C HART K BERRIOS M
Citation: S. Packman et al., CUTANEOUS MANIFESTATIONS IN A NEONATE WITH COBALAMIN-C METHYLMALONIC ACIDEMIA, American journal of human genetics, 57(4), 1995, pp. 1042-1042
LIPID-PEROXIDATION INDUCED CA2-A(2) ACTIVITY( SIGNALING OF PHOSPHOLIPASE)
Authors: SEVANIAN A SALGO MG SWEETMAN L
Citation: A. Sevanian et al., LIPID-PEROXIDATION INDUCED CA2-A(2) ACTIVITY( SIGNALING OF PHOSPHOLIPASE), Free radical biology & medicine, 15(5), 1993, pp. 481-481
USE OF A THICK-FILM CAPILLARY COLUMN FOR THE ANALYSIS OF ORGANIC-ACIDS IN BODY-FLUIDS
Authors: MEIERAUGENSTEIN W HOFFMANN GF HOLMES B JONES JL NYHAN WL SWEETMAN L
Citation: W. Meieraugenstein et al., USE OF A THICK-FILM CAPILLARY COLUMN FOR THE ANALYSIS OF ORGANIC-ACIDS IN BODY-FLUIDS, Journal of chromatography. Biomedical applications, 615(1), 1993, pp. 127-135
A NEW ENZYME ASSAY FOR SCAD, MCAD, AND LCAD
Authors: YANO S SWEETMAN L
Citation: S. Yano et L. Sweetman, A NEW ENZYME ASSAY FOR SCAD, MCAD, AND LCAD, American journal of human genetics, 53(3), 1993, pp. 964-964
Risultati: 1-14 |