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Results: 1-19 |
Results: 19
MOLECULAR ANALYSIS AND PRENATAL-DIAGNOSIS OF HUMAN FUMARASE DEFICIENCY
Authors: COUGHLIN EM CHRISTENSEN E KUNZ PL KRISHNAMOORTHY KS WALKER V DENNIS NR CHALMERS RA ELPELEG ON WHELAN D POLLITT RJ RAMESH V MANDELL R SHIH VE
Citation: Em. Coughlin et al., MOLECULAR ANALYSIS AND PRENATAL-DIAGNOSIS OF HUMAN FUMARASE DEFICIENCY, MOLECULAR GENETICS AND METABOLISM, 63(4), 1998, pp. 254-262
A SYSTEMATIC REVIEW OF EVIDENCE FOR THE APPROPRIATENESS OF NEONATAL SCREENING PROGRAMS FOR INBORN-ERRORS OF METABOLISM
Authors: THOMASON MJ LORD J BAIN MD CHALMERS RA LITTLEJOHNS P ADDISON GM WILCOX AH SEYMOUR CA
Citation: Mj. Thomason et al., A SYSTEMATIC REVIEW OF EVIDENCE FOR THE APPROPRIATENESS OF NEONATAL SCREENING PROGRAMS FOR INBORN-ERRORS OF METABOLISM, Journal of public health medicine, 20(3), 1998, pp. 331-343
PROTON NMR SPECTROSCOPIC ANALYSIS OF MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY-CAPACITY OF THE CHOLINE OXIDATION PATHWAY FOR METHYLATION IN-VIVO
Authors: BURNS SP HOLMES HC CHALMERS RA JOHNSON A ILES RA
Citation: Sp. Burns et al., PROTON NMR SPECTROSCOPIC ANALYSIS OF MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY-CAPACITY OF THE CHOLINE OXIDATION PATHWAY FOR METHYLATION IN-VIVO, Biochimica et biophysica acta. Molecular basis of disease, 1406(3), 1998, pp. 274-282
IMPROVEMENT IN EXERCISE TOLERANCE IN ISOVALERIC ACIDEMIA WITH L-CARNITINE THERAPY
Authors: LEE PJ HARRISON EL JONES MG CHALMERS RA LEONARD JV WHIPP BJ
Citation: Pj. Lee et al., IMPROVEMENT IN EXERCISE TOLERANCE IN ISOVALERIC ACIDEMIA WITH L-CARNITINE THERAPY, Journal of inherited metabolic disease, 21(2), 1998, pp. 136-140
SCIENTISTS SHOULD INFORM PUBLIC OF RISKS OF TRANSGENIC EXPERIMENTATION
Authors: CHALMERS RA
Citation: Ra. Chalmers, SCIENTISTS SHOULD INFORM PUBLIC OF RISKS OF TRANSGENIC EXPERIMENTATION, BMJ. British medical journal, 315(7102), 1997, pp. 255-255
MITOCHONDRIAL CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY PRESENTING AS SUDDEN NEONATAL DEATH
Authors: CHALMERS RA STANLEY CA ENGLISH N WIGGLESWORTH JS
Citation: Ra. Chalmers et al., MITOCHONDRIAL CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY PRESENTING AS SUDDEN NEONATAL DEATH, The Journal of pediatrics, 131(2), 1997, pp. 220-225
PROPIONYLCARNITINE EXCRETION IS NOT AFFECTED BY METRONIDAZOLE ADMINISTRATION TO PATIENTS WITH DISORDERS OF PROPIONATE METABOLISM
Authors: BURNS SP ILES RA SAUDUBRAY JM CHALMERS RA
Citation: Sp. Burns et al., PROPIONYLCARNITINE EXCRETION IS NOT AFFECTED BY METRONIDAZOLE ADMINISTRATION TO PATIENTS WITH DISORDERS OF PROPIONATE METABOLISM, European journal of pediatrics, 155(1), 1996, pp. 31-35
THE ENTRAPMENT OF MANNOSE-TERMINATED GLUCOCEREBROSIDASE (ALGLUCERASE)IN HUMAN CARRIER ERYTHROCYTES
Authors: BAX BE BAIN MD WARD CP FENSOM AH CHALMERS RA
Citation: Be. Bax et al., THE ENTRAPMENT OF MANNOSE-TERMINATED GLUCOCEREBROSIDASE (ALGLUCERASE)IN HUMAN CARRIER ERYTHROCYTES, Biochemical Society transactions, 24(3), 1996, pp. 441-441
THE ENTRAPMENT OF POLYETHYLENE GLYCOL-BOUND ADENOSINE-DEAMINASE (PEGADEMASE) IN HUMAN CARRIER ERYTHROCYTES
Authors: BAX BE FAIRBANKS LD BAIN MD SIMMONDS HA CHALMERS RA
Citation: Be. Bax et al., THE ENTRAPMENT OF POLYETHYLENE GLYCOL-BOUND ADENOSINE-DEAMINASE (PEGADEMASE) IN HUMAN CARRIER ERYTHROCYTES, Biochemical Society transactions, 24(3), 1996, pp. 442-442
USE OF HUMAN SOMATOTROPIN IN THE TREATMENT OF A PATIENT WITH METHYLMALONIC ACIDURIA
Authors: BAIN MD NUSSEY SS JONES M CHALMERS RA
Citation: Md. Bain et al., USE OF HUMAN SOMATOTROPIN IN THE TREATMENT OF A PATIENT WITH METHYLMALONIC ACIDURIA, European journal of pediatrics, 154(10), 1995, pp. 850-852
ANALYSIS OF ACYLCARNITINES BY GAS-CHROMATOGRAPHY ELECTRON-IMPACT MASS-SPECTROMETRY
Authors: JONES MG CHALMERS RA
Citation: Mg. Jones et Ra. Chalmers, ANALYSIS OF ACYLCARNITINES BY GAS-CHROMATOGRAPHY ELECTRON-IMPACT MASS-SPECTROMETRY, Biochemical Society transactions, 23(4), 1995, pp. 634-634
KETOGENIC FLUX FROM LIPIDS AND LEUCINE, ASSESSMENT IN 3-HYDROXY-3-METHYLGLUTARYL COA LYASE DEFICIENCY
Authors: HOLMES HC BURNS SP CHALMERS RA BAIN MS ILES RA
Citation: Hc. Holmes et al., KETOGENIC FLUX FROM LIPIDS AND LEUCINE, ASSESSMENT IN 3-HYDROXY-3-METHYLGLUTARYL COA LYASE DEFICIENCY, Biochemical Society transactions, 23(3), 1995, pp. 489-489
RHABDOMYOLYSIS ACID ACUTE ENCEPHALOPATHY IN LATE-ONSET MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: RUITENBEEK W POELS PJE TURNBULL DM GARAVAGLIA B CHALMERS RA TAYLOR RW GABREELS FJM
Citation: W. Ruitenbeek et al., RHABDOMYOLYSIS ACID ACUTE ENCEPHALOPATHY IN LATE-ONSET MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, Journal of Neurology, Neurosurgery and Psychiatry, 58(2), 1995, pp. 209-214
HIGH-RESOLUTION H-1-NMR SPECTROSCOPY OF BLOOD-PLASMA FOR METABOLIC STUDIES
Authors: ILES RA CHALMERS RA BURNS SP
Citation: Ra. Iles et al., HIGH-RESOLUTION H-1-NMR SPECTROSCOPY OF BLOOD-PLASMA FOR METABOLIC STUDIES, Clinical chemistry, 41(7), 1995, pp. 1054-1055
FIRST TRIMESTER PRENATAL EXCLUSION OF BIOTINIDASE DEFICIENCY
Authors: CHALMERS RA MISTRY J DOCHERTY PW STRATTON D
Citation: Ra. Chalmers et al., FIRST TRIMESTER PRENATAL EXCLUSION OF BIOTINIDASE DEFICIENCY, Journal of inherited metabolic disease, 17(6), 1994, pp. 751-752
NONPHARMACOLOGICAL TREATMENT OF HYPERTENSION
Authors: DAVIS L CHALMERS RA
Citation: L. Davis et Ra. Chalmers, NONPHARMACOLOGICAL TREATMENT OF HYPERTENSION, Lancet, 344(8926), 1994, pp. 885-886
A MASTERY OF MICROANALYSIS
Authors: CHALMERS RA
Citation: Ra. Chalmers, A MASTERY OF MICROANALYSIS, Chemistry in Britain, 29(6), 1993, pp. 492-494
HAIR LOSS IN CHILDREN
Authors: CHALMERS RA BAIN MD
Citation: Ra. Chalmers et Md. Bain, HAIR LOSS IN CHILDREN, Archives of Disease in Childhood, 69(3), 1993, pp. 407-408
IDENTIFICATION OF A MOLECULAR DEFECT IN A FUMARASE DEFICIENT PATIENT AND MAPPING OF THE FUMARASE GENE
Authors: COUGHLIN EM CHALMERS RA SLAUGENHAUPT SA GUSELLA JF SHIH VE RAMESH V
Citation: Em. Coughlin et al., IDENTIFICATION OF A MOLECULAR DEFECT IN A FUMARASE DEFICIENT PATIENT AND MAPPING OF THE FUMARASE GENE, American journal of human genetics, 53(3), 1993, pp. 896-896
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