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Results: 1-22 |
Results: 22
CLINICAL APPROACH TO INHERITED PEROXISOMAL DISORDERS - A SERIES OF 27PATIENTS
Authors: BAUMGARTNER MR POLLTHE BT VERHOEVEN NM JAKOBS C ESPEEL M ROELS F RABIER D LEVADE T ROLLAND MO MARTINEZ M WANDERS RJA SAUDUBRAY JM
Citation: Mr. Baumgartner et al., CLINICAL APPROACH TO INHERITED PEROXISOMAL DISORDERS - A SERIES OF 27PATIENTS, Annals of neurology, 44(5), 1998, pp. 720-730
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
A MISSENSE MUTATION (HIS42ARG) IN THE T-PROTEIN GENE FROM A LARGE ISRAELI-ARAB KINDRED WITH NONKETOTIC HYPERGLYCINEMIA
Authors: KURE S MANDEL H ROLLAND MO SAKATA Y SHINKA T DRUGAN A BONEH A TADA K MATSUBARA Y NARISAWA K
Citation: S. Kure et al., A MISSENSE MUTATION (HIS42ARG) IN THE T-PROTEIN GENE FROM A LARGE ISRAELI-ARAB KINDRED WITH NONKETOTIC HYPERGLYCINEMIA, Human genetics, 102(4), 1998, pp. 430-434
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
2 MISSENSE POINT MUTATIONS IN DIFFERENT ALLELES IN THE 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE GENE PRODUCE 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA IN A FRENCH PATIENT
Authors: ZAPATER N PIE J LLOBERAS J ROLLAND MO LEROUX B VIDAILHET M DIVRY P HEGARDT FG CASALS N
Citation: N. Zapater et al., 2 MISSENSE POINT MUTATIONS IN DIFFERENT ALLELES IN THE 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE GENE PRODUCE 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA IN A FRENCH PATIENT, Archives of biochemistry and biophysics (Print), 358(2), 1998, pp. 197-203
A NONSENSE MUTATION IN THE 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE GENE PRODUCES EXON SKIPPING IN 2 PATIENTS OF DIFFERENT ORIGIN WITH 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY
Authors: PIE J CASALS N CASALE CH BUESA C MASCARO C BARCELO A ROLLAND MO ZABOT T HARO D EYSKENS F DIVRY P HEGARDT FG
Citation: J. Pie et al., A NONSENSE MUTATION IN THE 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE GENE PRODUCES EXON SKIPPING IN 2 PATIENTS OF DIFFERENT ORIGIN WITH 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY, Biochemical journal, 323, 1997, pp. 329-335
HOMOCYSTEINE RESPONSE TO METHIONINE CHALLENGE IN 4 OBLIGATE HETEROZYGOTES FOR HOMOCYSTINURIA AND RELATIONSHIP WITH CYSTATHIONINE BETA-SYNTHASE MUTATIONS
Authors: SPERANDEO MP CANDITO M SEBASTIO G ROLLAND MO TURCCAREL C GIUDICELLI H DELLAMONICA P ANDRIA G
Citation: Mp. Sperandeo et al., HOMOCYSTEINE RESPONSE TO METHIONINE CHALLENGE IN 4 OBLIGATE HETEROZYGOTES FOR HOMOCYSTINURIA AND RELATIONSHIP WITH CYSTATHIONINE BETA-SYNTHASE MUTATIONS, Journal of inherited metabolic disease, 19(3), 1996, pp. 351-356
METABOLIC STUDIES IN TWIN BROTHERS WITH 2-METHYLACETOACETYL-COA THIOLASE DEFICIENCY
Authors: FONTAINE M BRIAND G SER N ARMELIN I ROLLAND MO DEGAND P VAMECQ J
Citation: M. Fontaine et al., METABOLIC STUDIES IN TWIN BROTHERS WITH 2-METHYLACETOACETYL-COA THIOLASE DEFICIENCY, Clinica chimica acta, 255(1), 1996, pp. 67-83
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
LOCALIZATION OF REFSUM-DISEASE WITH INCREASED PIPECOLIC ACIDEMIA TO CHROMOSOME 10P BY HOMOZYGOSITY MAPPING AND CARRIER TESTING IN A SINGLE NUCLEAR FAMILY
Authors: NADAL N ROLLAND MO TRANCHANT C REUTENAUER L GYAPAY G WARTER JM MANDEL JL KOENIG M
Citation: N. Nadal et al., LOCALIZATION OF REFSUM-DISEASE WITH INCREASED PIPECOLIC ACIDEMIA TO CHROMOSOME 10P BY HOMOZYGOSITY MAPPING AND CARRIER TESTING IN A SINGLE NUCLEAR FAMILY, Human molecular genetics, 4(10), 1995, pp. 1963-1966
AN ATYPICAL FRENCH FORM OF PYRUVATE-CARBOXYLASE DEFICIENCY
Authors: PINEDA M CAMPISTOL J VILASECA MA BRIONES P RIBES A TEMUDO T PONS M CUSI V ROLLAND MO
Citation: M. Pineda et al., AN ATYPICAL FRENCH FORM OF PYRUVATE-CARBOXYLASE DEFICIENCY, Brain & development, 17(4), 1995, pp. 276-279
MOLECULAR ABNORMALITIES IN TYPE-I PRIMARY HYPEROXALURIA
Authors: COCHAT P BOZON D ROLLAND MO DUMONTEL C LEPOUTRE I SCHELL M DIVRY P
Citation: P. Cochat et al., MOLECULAR ABNORMALITIES IN TYPE-I PRIMARY HYPEROXALURIA, Annales de pediatrie, 42(10), 1995, pp. 596-602
RETROVIRAL-MEDIATED GENE-TRANSFER CORRECTS VERY-LONG-CHAIN FATTY-ACIDMETABOLISM IN ADRENOLEUKODYSTROPHY FIBROBLASTS
Authors: CARTIER N LOPEZ J MOULLIER P ROCCHICCIOLI F ROLLAND MO JORGE P MOSSER J MANDEL JL BOUGNERES PF DANOS O AUBOURG P
Citation: N. Cartier et al., RETROVIRAL-MEDIATED GENE-TRANSFER CORRECTS VERY-LONG-CHAIN FATTY-ACIDMETABOLISM IN ADRENOLEUKODYSTROPHY FIBROBLASTS, Proceedings of the National Academy of Sciences of the United Statesof America, 92(5), 1995, pp. 1674-1678
MOLECULAR PATHOLOGY OF PRIMARY HYPEROXALU RIA TYPE-1
Authors: COCHAT P ROLLAND MO BOZON D DUMONTEL C DIVRY P
Citation: P. Cochat et al., MOLECULAR PATHOLOGY OF PRIMARY HYPEROXALU RIA TYPE-1, Nephrologie, 15(6), 1994, pp. 375-380
PRENATAL-DIAGNOSIS OF COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA (COBALAMIN CBLC OR CBLD MUTANT)
Authors: CHADEFAUXVEKEMANS B ROLLAND MO LYONNET S RABIER D DIVRY P KAMOUN P
Citation: B. Chadefauxvekemans et al., PRENATAL-DIAGNOSIS OF COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA (COBALAMIN CBLC OR CBLD MUTANT), Prenatal diagnosis, 14(5), 1994, pp. 417-418
UNRELIABLE VERIFICATION OF PRENATAL-DIAGNOSIS OF CANAVAN DISEASE - ASPARTOACYLASE ACTIVITY IN DEFICIENT AND NORMAL FETAL SKIN FIBROBLASTS
Authors: ROLLAND MO MANDON G BERNARD A ZABOT MT MATHIEU M
Citation: Mo. Rolland et al., UNRELIABLE VERIFICATION OF PRENATAL-DIAGNOSIS OF CANAVAN DISEASE - ASPARTOACYLASE ACTIVITY IN DEFICIENT AND NORMAL FETAL SKIN FIBROBLASTS, Journal of inherited metabolic disease, 17(6), 1994, pp. 748-748
RESISTANCE TO ERUCIC-ACID AS A SELECTABLE MARKER FOR PEROXISOMAL ACTIVITY - ISOLATION OF REVERTANTS OF AN INFANTILE REFSUM-DISEASE CELL-LINE
Authors: BIOUKAR EB STRAEHLI F NG KH ROLLAND MO HASHIMOTO T CARREAU JP DESCHATRETTE J
Citation: Eb. Bioukar et al., RESISTANCE TO ERUCIC-ACID AS A SELECTABLE MARKER FOR PEROXISOMAL ACTIVITY - ISOLATION OF REVERTANTS OF AN INFANTILE REFSUM-DISEASE CELL-LINE, Journal of inherited metabolic disease, 17(1), 1994, pp. 41-59
MEVALONIC ACIDURIA IN 3 SIBLINGS - A NEW RECOGNIZABLE METABOLIC ENCEPHALOPATHY
Authors: MANCINI J PHILIP N CHABROL B DIVRY P ROLLAND MO PINSARD N
Citation: J. Mancini et al., MEVALONIC ACIDURIA IN 3 SIBLINGS - A NEW RECOGNIZABLE METABOLIC ENCEPHALOPATHY, Pediatric neurology, 9(3), 1993, pp. 243-246
MAGNETIC-RESONANCE-IMAGING IN JUVENILE CANAVAN DISEASE
Authors: TOFT PB GEISSHOLTORFF R ROLLAND MO PRYDS O MULLERFORELL W CHRISTENSEN E LEHNERT W LOU HC OTT D HENNIG J HENRIKSEN O
Citation: Pb. Toft et al., MAGNETIC-RESONANCE-IMAGING IN JUVENILE CANAVAN DISEASE, European journal of pediatrics, 152(9), 1993, pp. 750-753
1ST-TRIMESTER PRENATAL-DIAGNOSIS OF NONKETOTIC HYPERGLYCINEMIA BY A MICROASSAY OF GLYCINE CLEAVAGE ENZYME
Authors: ROLLAND MO MANDON G MATHIEU M
Citation: Mo. Rolland et al., 1ST-TRIMESTER PRENATAL-DIAGNOSIS OF NONKETOTIC HYPERGLYCINEMIA BY A MICROASSAY OF GLYCINE CLEAVAGE ENZYME, Prenatal diagnosis, 13(8), 1993, pp. 771-772
RELIABLE PRENATAL-DIAGNOSIS OF CANAVAN DISEASE (ASPARTOACYLASE DEFICIENCY) - COMPARISON OF ENZYMATIC AND METABOLITE ANALYSIS
Authors: BENNETT MJ GIBSON KM SHERWOOD WG DIVRY P ROLLAND MO ELPELEG ON RINALDO P JAKOBS C
Citation: Mj. Bennett et al., RELIABLE PRENATAL-DIAGNOSIS OF CANAVAN DISEASE (ASPARTOACYLASE DEFICIENCY) - COMPARISON OF ENZYMATIC AND METABOLITE ANALYSIS, Journal of inherited metabolic disease, 16(5), 1993, pp. 831-836
1ST-TRIMESTER PRENATAL-DIAGNOSIS OF CANAVAN DISEASE
Authors: ROLLAND MO DIVRY P MANDON G THOULON JM FIUMARA A MATHIEU M
Citation: Mo. Rolland et al., 1ST-TRIMESTER PRENATAL-DIAGNOSIS OF CANAVAN DISEASE, Journal of inherited metabolic disease, 16(3), 1993, pp. 581-583
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