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Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
Published in:
Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 216, doi. 10.1023/A:1005391300203
By:
- Rabier, D.;
- Diry, C.;
- Rotig, A.;
- Rustin, P.;
- Heron, B.;
- Bardet, J.;
- Parvy, P.;
- Ponsot, G.;
- Marsac, C.;
- Saudubray, J.;
- Munnich, A.;
- Kamoun, P.
Publication type:
Article
Pyruvate dehydrogenase complex deficiency and absence of subunit X.
Published in:
Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 9, doi. 10.1023/A:1005351012066
By:
- De Meirleir, L.;
- Lissens, W.;
- Benelli, C.;
- Marsac, C.;
- De Klerk, J.;
- Scholte, J.;
- Van Diggelen, O.;
- Kleijer, W.;
- Seneca, S.;
- Liebaers, I.
Publication type:
Article
A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.
Published in:
Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 49, doi. 10.1023/A:1005357506614
By:
- Degoul, F.;
- François, D.;
- Diry, M.;
- Ponsot, G.;
- Desguerre, I.;
- Héron, B.;
- Marsac, C.;
- Moutard, M.L.
Publication type:
Article
CONGENITAL LACTIC ACIDOSIS, α-KETOGLUTARIC ACIDURIA AND VARIANT FORM OF MAPLE SYRUP URINE DISEASE DUE TO A SINGLE ENZYME DEFECT: DIHYDROLIPOYL DEHYDROGENASE DEFICIENCY.
Published in:
Acta Paediatrica, 1982, v. 71, n. 1, p. 167, doi. 10.1111/j.1651-2227.1982.tb09393.x
By:
- MUNNICH, A.;
- SAUDUBRAY, J. M.;
- TAYLOR, J.;
- CHARPENTIER, C.;
- MARSAC, C.;
- ROCCHICCIOLI, F.;
- AMEDEE-MANESME, O.;
- COUDE, F. X.;
- FREZAL, J.;
- ROBINSON, B. H.
Publication type:
Article
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
Published in:
1999
By:
- Rouillac, C;
- Aral, B;
- Fouque, F;
- Marchant, D;
- Saudubray, J M;
- Dumez, Y;
- Lindsay, G;
- Abitbol, M;
- Dufier, J L;
- Marsac, C;
- Benelli, C
Publication type:
journal article
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
Published in:
Prenatal Diagnosis, 1999, v. 19, n. 12, p. 1160, doi. 10.1002/(SICI)1097-0223(199912)19:12<1160::AID-PD712>3.0.CO;2-2
By:
- Rouillac, C.;
- Aral, B.;
- Fouque, F.;
- Marchant, D.;
- Saudubray, J-M.;
- Dumez, Y.;
- Lindsay, G.;
- Abitbol, M.;
- Dufier, J-L.;
- Marsac, C.;
- Benelli, C.
Publication type:
Article
Leigh's disease due to a new mutation in the PDHX gene.
Published in:
2006
By:
- Schiff M;
- Miné M;
- Brivet M;
- Marsac C;
- Elmaleh-Bergés M;
- Evrard P;
- Ogier de Baulny H
Publication type:
Journal Article
Pyruvate carboxylase deficiency: metabolic characteristics and new neurological aspects.
Published in:
2006
By:
- García-Cazorla A;
- Rabier D;
- Touati G;
- Chadefaux-Vekemans B;
- Marsac C;
- de Lonlay P;
- Saudubray JM
Publication type:
Journal Article
A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction.
Published in:
Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 325, doi. 10.1023/A:1016570828778
By:
- Benelli, C.;
- Fouque, F.;
- Redonnet-Vernhet, I.;
- Malgat, M.;
- Fontan, D.;
- Marsac, C.;
- Dey, R.
Publication type:
Article
Higher maternal than paternal inheritance of diabetes in GK rats.
Published in:
1994
By:
- Gauguier, Dominique;
- Nelson, Isabelle;
- Bernard, Catherine;
- Parent, Véronique;
- Marsac, Cécile;
- Cohen, Daniel;
- Frogel, Philippe;
- Gauguier, D;
- Nelson, I;
- Bernard, C;
- Parent, V;
- Marsac, C;
- Cohen, D;
- Froguel, P
Publication type:
journal article
Neonatal congential lactic acidosis with pyruvte carboxylase deficiency in two siblings.
Published in:
Acta Paediatrica, 1976, v. 65, n. 6, p. 717, doi. 10.1111/j.1651-2227.1976.tb18009.x
By:
- SAUDUBRAY, J. M.;
- MARSAC, C.;
- CHAPENTIER, C.;
- CHTHELINEAU, L.;
- LEAUD, M. BESSON;
- LEROUX, J. P.
Publication type:
Article
NEONATAL CONGENITAL LACTIC ACIDOSIS WITH PYRUVATE CARBOXYLASE DEFICIENCY IN TWO SIBLINGS.
Published in:
Acta Paediatrica, 1976, v. 65, n. 5, p. 717, doi. 10.1111/j.1651-2227.1976.tb04960.x
By:
- SAUDUBRAY, J. M.;
- MARSAC, C.;
- CHARPENTIER, C.;
- CATHELINEAU, L.;
- LEAUD, M. BESSON;
- LEROUX, J. P.
Publication type:
Article
Myo-leukoencephalopathy in twins: Study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation.
Published in:
Annals of Neurology, 1994, v. 35, n. 3, p. 365, doi. 10.1002/ana.410350321
By:
- Degoul, F.;
- Diry, M.;
- Pou-Serradell, A.;
- Lloreta, J.;
- Marsac, C.
Publication type:
Article
Zidovudine myopathy: A distinctive disorder associated with mitochondrial dysfunction.
Published in:
Annals of Neurology, 1991, v. 29, n. 6, p. 606, doi. 10.1002/ana.410290607
By:
- Mhiri, C.;
- Baudrimont, M.;
- Bonne, G.;
- Geny, C.;
- Degoul, F.;
- Marsac, C.;
- Roullet, E.;
- Gherardi, R.
Publication type:
Article
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.
Published in:
Human Mutation, 2001, v. 17, n. 3, p. 235, doi. 10.1002/humu.9
By:
- Marchant, D.;
- Gogat, K.;
- Boutboul, S.;
- Péquignot, M.;
- Sternberg, C.;
- Dureau, P.;
- Roche, O.;
- Uteza, Y.;
- Hache, J.C.;
- Puech, B.;
- Puech, V.;
- Dumur, V.;
- Mouillon, M.;
- Munier, F.L.;
- Schorderet, D.F.;
- Marsac, C.;
- Dufier, J.L.;
- Abitbol, M.
Publication type:
Article
Isoleucylation properties of native human mitochondrial tRNA[sup Ile] and tRNA[sup Ile] transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNA[sup Ile] gene.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 3, p. 347, doi. 10.1093/hmg/7.3.347
By:
- Degoul, F.;
- Brulé, H.;
- Cepanec, C.;
- Helm, M.;
- Marsac, C.;
- Leroux, J.‐P.;
- Giegé, R.;
- Florentz, C.
Publication type:
Article

Found: 16