AAAAAA

   
Results: 1-12 |
Results: 12
MUTATION ANALYSIS IN 11 FRENCH PATIENTS WITH FABRY-DISEASE
Authors: GUFFON N FROISSART R CHEVALIERPORST F MAIRE I
Citation: N. Guffon et al., MUTATION ANALYSIS IN 11 FRENCH PATIENTS WITH FABRY-DISEASE, Human mutation, 1998, pp. 288-290
BMT IN HURLER-AND-HUNTER DISEASES - A 12 YEARS EXPERIENCE IN A SINGLEPEDIATRIC CENTER
Authors: SOUILLET G GUFFON N MAIRE I GUIBAUD P
Citation: G. Souillet et al., BMT IN HURLER-AND-HUNTER DISEASES - A 12 YEARS EXPERIENCE IN A SINGLEPEDIATRIC CENTER, Bone marrow transplantation, 21, 1998, pp. 28-28
SUCCINYL-COA - ACETOACETATE TRANSFERASE DEFICIENCY - IDENTIFICATION OF A NEW CASE - PRENATAL EXCLUSION IN 3 FURTHER PREGNANCIES
Authors: ROLLAND MO GUFFON N MANDON G DIVRY P
Citation: Mo. Rolland et al., SUCCINYL-COA - ACETOACETATE TRANSFERASE DEFICIENCY - IDENTIFICATION OF A NEW CASE - PRENATAL EXCLUSION IN 3 FURTHER PREGNANCIES, Journal of inherited metabolic disease, 21(6), 1998, pp. 687-688
FOLLOW-UP OF 9 PATIENTS WITH HURLER-SYNDROME AFTER BONE-MARROW TRANSPLANTATION
Authors: GUFFON N SOUILLET G MAIRE I STRACZEK J GUIBAUD P
Citation: N. Guffon et al., FOLLOW-UP OF 9 PATIENTS WITH HURLER-SYNDROME AFTER BONE-MARROW TRANSPLANTATION, The Journal of pediatrics, 133(1), 1998, pp. 119-125
DIAGNOSIS OF INBORN-ERRORS OF METABOLISM BY ACYLCARNITINES PROFILING IN BLOOD USING TANDEM MASS-SPECTROMETRY
Authors: DELOLME F VIANEYSABAN C GUFFON N FAVREBONVIN J GUIBAUD P BECCHI M MATHIEU M DIVRY P
Citation: F. Delolme et al., DIAGNOSIS OF INBORN-ERRORS OF METABOLISM BY ACYLCARNITINES PROFILING IN BLOOD USING TANDEM MASS-SPECTROMETRY, Archives de pediatrie, 4(9), 1997, pp. 819-826
DIAGNOSIS OF INBORN-ERRORS OF METABOLISM BY ACYLCARNITINE PROFILING IN BLOOD USING TANDEM MASS-SPECTROMETRY
Authors: VIANEYSABAN C GUFFON N DELOLNE F GUIBAUD P MATHIEU M DIVRY P
Citation: C. Vianeysaban et al., DIAGNOSIS OF INBORN-ERRORS OF METABOLISM BY ACYLCARNITINE PROFILING IN BLOOD USING TANDEM MASS-SPECTROMETRY, Journal of inherited metabolic disease, 20(3), 1997, pp. 411-414
MOLECULAR HISTOLOGY OF MITOCHONDRIAL AND NUCLEAR TRANSCRIPTS IN THE MUSCLE OF PATIENTS HARBORING A SINGLE MITOCHONDRIAL-DNA DELETION
Authors: CARRIER H BURTPICHAT B FLOCARD F GUFFON N MOUSSON B DUMOULIN R GODINOT C
Citation: H. Carrier et al., MOLECULAR HISTOLOGY OF MITOCHONDRIAL AND NUCLEAR TRANSCRIPTS IN THE MUSCLE OF PATIENTS HARBORING A SINGLE MITOCHONDRIAL-DNA DELETION, Acta Neuropathologica, 91(1), 1996, pp. 104-111
JUVENILE METACHROMATIC LEUKODYSTROPHY - NEUROLOGICAL OUTCOME 2 YEARS AFTER BONE-MARROW TRANSPLANTATION
Authors: GUFFON N SOUILLET G MAIRE I DORCHE C MATHIEU M GUIBAUD P
Citation: N. Guffon et al., JUVENILE METACHROMATIC LEUKODYSTROPHY - NEUROLOGICAL OUTCOME 2 YEARS AFTER BONE-MARROW TRANSPLANTATION, Journal of inherited metabolic disease, 18(2), 1995, pp. 159-161
A NEW NEONATAL CASE OF N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY TREATED BY CARBAMYLGLUTAMATE
Authors: GUFFON N VIANEYSABAN C BOURGEOIS J RABIER D COLOMBO JP GUIBAUD P
Citation: N. Guffon et al., A NEW NEONATAL CASE OF N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY TREATED BY CARBAMYLGLUTAMATE, Journal of inherited metabolic disease, 18(1), 1995, pp. 61-65
2-KETOGLUTARATE DEHYDROGENASE-DEFICIENCY, A RARE CAUSE OF PRIMARY HYPERLACTATEMIA - REPORT OF A NEW CASE
Authors: GUFFON N LOPEZMEDIAVILLA C DUMOULIN R MOUSSON B GODINOT C CARRIER H COLLOMBET JM DIVRY P MATHIEU M GUIBAUD P
Citation: N. Guffon et al., 2-KETOGLUTARATE DEHYDROGENASE-DEFICIENCY, A RARE CAUSE OF PRIMARY HYPERLACTATEMIA - REPORT OF A NEW CASE, Journal of inherited metabolic disease, 16(5), 1993, pp. 821-830
MULTIPLE ACYL-COA DEHYDROGENATION DEFICIENCY IN 2 SIBLINGS
Authors: GUFFON N VIANEYSABAN C BERTHIER JC TILL M BERTRAND C DIVRY P GUIBAUD P
Citation: N. Guffon et al., MULTIPLE ACYL-COA DEHYDROGENATION DEFICIENCY IN 2 SIBLINGS, Pediatrie, 48(5), 1993, pp. 365-371
DIETARY-MANAGEMENT IN MAPLE-SYRUP-URINE-D ISEASE
Authors: GUIBAUD P DEPARSCAU L GUFFON N LAVAL MC
Citation: P. Guibaud et al., DIETARY-MANAGEMENT IN MAPLE-SYRUP-URINE-D ISEASE, Pediatrie, 48(10), 1993, pp. 681-686
Risultati: 1-12 |