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Results: 1-9 |
Results: 9
MUTATIONAL SPECTRUM OF PHENYLKETONURIA IN IRELAND
Authors: ODONNELL KA ONEILL CA MAYNE P NAUGHTEN E CROKE DT
Citation: Ka. Odonnell et al., MUTATIONAL SPECTRUM OF PHENYLKETONURIA IN IRELAND, Biochemical Society transactions, 26(1), 1998, pp. 79-79
REDUCED CD8-ALPHA-ALPHA LYMPHOCYTES IN 2 PATIENTS WITH SEVERELY REDUCED NK CELLS
Authors: DUNNE J LYNCH S SMITH O NAUGHTEN E FEIGHERY C
Citation: J. Dunne et al., REDUCED CD8-ALPHA-ALPHA LYMPHOCYTES IN 2 PATIENTS WITH SEVERELY REDUCED NK CELLS, Molecular immunology, 35(11-12), 1998, pp. 759-759
RESPONSE TO IL-15 STIMULATION IN 2 PATIENTS WITH SEVERELY REDUCED NK CELLS
Authors: DUNNE J LYNCH S SMITH O NAUGHTEN E FEIGHERY C
Citation: J. Dunne et al., RESPONSE TO IL-15 STIMULATION IN 2 PATIENTS WITH SEVERELY REDUCED NK CELLS, Molecular immunology, 35(11-12), 1998, pp. 787-787
HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY IN IRELAND - 25 YEARS EXPERIENCE OF A NEWBORN SCREENED AND TREATED POPULATION WITH REFERENCE TO CLINICAL OUTCOME AND BIOCHEMICAL CONTROL
Authors: YAP S NAUGHTEN E
Citation: S. Yap et E. Naughten, HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY IN IRELAND - 25 YEARS EXPERIENCE OF A NEWBORN SCREENED AND TREATED POPULATION WITH REFERENCE TO CLINICAL OUTCOME AND BIOCHEMICAL CONTROL, Journal of inherited metabolic disease, 21(7), 1998, pp. 738-747
LATE-INFANTILE 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY PRESENTINGAS GLOBAL DEVELOPMENTAL DELAY
Authors: YAP S MONAVARI AA THORNTON P NAUGHTEN E
Citation: S. Yap et al., LATE-INFANTILE 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY PRESENTINGAS GLOBAL DEVELOPMENTAL DELAY, Journal of inherited metabolic disease, 21(2), 1998, pp. 175-176
3-METHYLGLUTACONIC ACIDURIA IN PREGNANCY
Authors: WALSH R CONWAY H ROCHE G NAUGHTEN E MAYNE PD
Citation: R. Walsh et al., 3-METHYLGLUTACONIC ACIDURIA IN PREGNANCY, Lancet, 349(9054), 1997, pp. 776-776
GALACTOSEMIA - A CONTROVERSIAL DISORDER - SCREENING AND OUTCOME - IRELAND 1972-1992
Authors: BADAWI N CAHALANE SF MCDONALD M MULHAIR P BEGI B ODONOHUE A NAUGHTEN E
Citation: N. Badawi et al., GALACTOSEMIA - A CONTROVERSIAL DISORDER - SCREENING AND OUTCOME - IRELAND 1972-1992, Irish medical journal, 89(1), 1996, pp. 16-17
HIGH-FREQUENCY (71-PERCENT) OF CYSTATHIONINE BETA-SNYTHASE MUTATION G307S IN IRISH HOMOCYSTINURIA PATIENTS
Authors: GALLAGHER PM WARD P TAN S NAUGHTEN E KRAUS JP SELLAR GC MCCONNELL DJ GRAHAM I WHITEHEAD AS
Citation: Pm. Gallagher et al., HIGH-FREQUENCY (71-PERCENT) OF CYSTATHIONINE BETA-SNYTHASE MUTATION G307S IN IRISH HOMOCYSTINURIA PATIENTS, Human mutation, 6(2), 1995, pp. 177-180
RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS
Authors: EISENSMITH RC GOLTSOV AA ONEILL C TYFIELD LA SCHWARTZ EI KUZMIN AI BARANOVSKAYA SS TSUKERMAN GL TREACY E SCRIVER CR GUTTLER F GULDBERG P EIKEN HG APOLD J SVENSSON E NAUGHTEN E CAHALANE SF CROKE DT COCKBURN F WOO SLC
Citation: Rc. Eisensmith et al., RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS, American journal of human genetics, 56(1), 1995, pp. 278-286
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