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Results: 1-16 |
Results: 16
MUTATIONS IN THE PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE (PCBD) GENECAUSE A BENIGN FORM OF HYPERPHENYLALANINEMIA
Authors: THONY B NEUHEISER F KIERAT L ROLLAND MO GUIBAUD P SCHLUTER T GERMANN R HEIDENREICH RA DURAN M DEKLERK JBC AYLING JE BLAU N
Citation: B. Thony et al., MUTATIONS IN THE PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE (PCBD) GENECAUSE A BENIGN FORM OF HYPERPHENYLALANINEMIA, Human genetics, 103(2), 1998, pp. 162-167
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
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
A 13-BP DELETION (1952 DEL-13) IN THE METHYLMALONYL COA MUTASE GENE OF AN AFFECTED PATIENT
Authors: TOURAINE RL ROLLAND MO DIVRY P MATHIEU M GUIBAUD P BOZON D
Citation: Rl. Touraine et al., A 13-BP DELETION (1952 DEL-13) IN THE METHYLMALONYL COA MUTASE GENE OF AN AFFECTED PATIENT, Human mutation, 5(4), 1995, pp. 354-356
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
CONSTITUTIONAL HEPATORENAL DISEASES - REN AL INVOLVEMENT OF TYROSINEMIA TYPE-I
Authors: COCHAT P GUIBAUD P BAVEREL G
Citation: P. Cochat et al., CONSTITUTIONAL HEPATORENAL DISEASES - REN AL INVOLVEMENT OF TYROSINEMIA TYPE-I, Archives de pediatrie, 1(4), 1994, pp. 417-418
OSTEOCRANIOSTENOSIS
Authors: VERLOES A NARCY F GRATTAGLIANO B DELEZOIDE AL GUIBAUD P SCHAAPS JP LEMERRER M MAROTEAUX P
Citation: A. Verloes et al., OSTEOCRANIOSTENOSIS, Journal of Medical Genetics, 31(10), 1994, pp. 772-778
HUNTER SYNDROME - GENE DELETIONS AND REARRANGEMENTS
Authors: FROISART R BLOND JL MAIRE I GUIBAUD P HOPWOOD JJ MATHIEU M BOZON D
Citation: R. Froisart et al., HUNTER SYNDROME - GENE DELETIONS AND REARRANGEMENTS, Human mutation, 2(2), 1993, pp. 138-140
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
HUMAN CULTURED MYOBLASTS - A MODEL FOR THE DIAGNOSIS OF MITOCHONDRIALDISEASES
Authors: DUMOULIN R MANDON G COLLOMBET JM BLOND JL CARRIER H GODINOT C FLOCARD F VILLARD J GUIBAUD P MATHIEU M MOUSSON B
Citation: R. Dumoulin et al., HUMAN CULTURED MYOBLASTS - A MODEL FOR THE DIAGNOSIS OF MITOCHONDRIALDISEASES, Journal of inherited metabolic disease, 16(3), 1993, pp. 545-547
ABOUT ATTACK IN INBORN, HYPOCETOTIC, ORGANIC ACIDURIA
Authors: GUIBAUD P
Citation: P. Guibaud, ABOUT ATTACK IN INBORN, HYPOCETOTIC, ORGANIC ACIDURIA, Pediatrie, 48(5), 1993, pp. 361-363
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: 1-16 |