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Plasma Lysine Concentration and Availability of 2-Ketoglutarate in Liver Mitochondria.
Published in:
Journal of Inherited Metabolic Disease, 2002, v. 25, n. 1, p. 1, doi. 10.1023/A:1015195009330
By:
- Kamoun, P.;
- Richard, V.;
- Rabier, D.;
- Saudubray, J.
Publication type:
Article
Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis.
Published in:
Journal of Inherited Metabolic Disease, 2000, v. 23, n. 3, p. 197, doi. 10.1023/A:1005675827612
By:
- Saudubray, J.;
- De Lonlay, P.;
- Touati, G.;
- Martin, D.;
- Nassogne, M.;
- Castelnau, P.;
- Sevin, C.;
- Laborde, C.;
- Baussan, C.;
- Brivet, M.;
- Vassault, A.;
- Rabier, D.;
- Bonnefont, J.;
- Kamoun, P.
Publication type:
Article
Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement.
Published in:
Journal of Inherited Metabolic Disease, 2000, v. 23, n. 1, p. 45, doi. 10.1023/A:1005646813492
By:
- Touati, G.;
- Rusthoven, E.;
- Depondt, E.;
- Dorche, C.;
- Duran, M.;
- Heron, B.;
- Rabier, D.;
- Russo, M.;
- Saudubray, J.
Publication type:
Article
Recognition and management of fatty acid oxidation defects: A series of 107 patients.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 487, doi. 10.1023/A:1005556207210
By:
- Saudubray, J.;
- Martin, D.;
- De Lonlay, P.;
- Touati, G.;
- Poggi-Travert, F.;
- Bonnet, D.;
- Jouvet, P.;
- Boutron, M.;
- Slama, A.;
- Vianey-Saban, C.;
- Bonnefont, J.;
- Rabier, D.;
- Kamoun, P.;
- Brivet, M.
Publication type:
Article
Defects in activation and transport of fatty acids.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 428, doi. 10.1023/A:1005552106301
By:
- Brivet, M.;
- Boutron, A.;
- Slama, A.;
- Costa, C.;
- Thuillier, L.;
- Demaugre, F.;
- Rabier, D.;
- Saudubray, J.;
- Bonnefont, J.
Publication type:
Article
D-2-Hydroxyglutaric aciduria: Further clinical delineation.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 4, p. 404, doi. 10.1023/A:1005548005393
By:
- Knaap, M.;
- Jakobs, C.;
- Hoffmann, G.;
- Duran, M.;
- Muntau, A.;
- Schweitzer, S.;
- Kelley, R.;
- Parrot-Roulaud, F.;
- Amiel, J.;
- Lonlay, P.;
- Rabier, D.;
- Eeg-Olofsson, O.
Publication type:
Article
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
Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease.
Published in:
Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 463, doi. 10.1023/A:1005314025760
By:
- Jouvet, P.;
- Poggi, F.;
- Rabier, D.;
- Michel, J.;
- Hubert, P.;
- Sposito, M.;
- Saudubray, J.;
- Man, N.
Publication type:
Article
Differing clinical presentation of succinic semialdehyde dehydrogenase deficiency in adolescent siblings from Lifu Island, New Caledonia.
Published in:
Journal of Inherited Metabolic Disease, 1997, v. 20, n. 3, p. 370, doi. 10.1023/A:1005334129412
By:
- Gibson, K.;
- Doskey, A.;
- Rabier, D.;
- Jakobs, C.;
- Morlat, C.
Publication type:
Article
Liver transplantation in urea cycle disorders.
Published in:
European Journal of Pediatrics, 1999, v. 158, n. 14, p. S055, doi. 10.1007/PL00014323
By:
- Saudubray, J. M.;
- Touati, G.;
- Delonlay, P.;
- Jouvet, P.;
- Narcy, C.;
- Laurent, J.;
- Rabier, D.;
- Kamoun, P.;
- Jan, D.;
- Revillon, Y.
Publication type:
Article
Liver transplantation in propionic acidaemia.
Published in:
European Journal of Pediatrics, 1999, v. 158, n. 14, p. S065, doi. 10.1007/PL00014325
By:
- Saudubray, J. M.;
- Touati, G.;
- Delonlay, P.;
- Jouvet, P.;
- Schlenzig, J.;
- Narcy, C.;
- Laurent, J.;
- Rabier, D.;
- Kamoun, P.;
- Jan, D.;
- Revillon, Y.
Publication type:
Article
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
Published in:
1999
By:
- Parfait, B.;
- de Lonlay, P.;
- von Kleist-Retzow, J. C.;
- Cormier-Daire, V.;
- Chrétien, D.;
- Rötig, A.;
- Rabier, D.;
- Saudubray, J. M.;
- Rustin, P.;
- Munnich, A.;
- Chrétien, D;
- Rötig, A
Publication type:
journal article
Muscular origin of hyperammonaemia.
Published in:
1998
By:
- Kamoun, P.;
- Rabier, D.;
- Saudubray, J. M.
Publication type:
Case Study
Lethal ornithine transcarbamylase deficiency in a female neonate: a new case.
Published in:
1998
By:
- Klosowski, S;
- Largilliere, C;
- Storme, L;
- Rakza, T;
- Rabier, D;
- Lequien, P
Publication type:
Case Study
Improving the prenatal diagnosis of citrullinemia using citrulline/ornithine+arginine ratio in amniotic fluid.
Published in:
Prenatal Diagnosis, 2002, v. 22, n. 6, p. 456, doi. 10.1002/pd.344
By:
- Chadefaux-Vekemans, B.;
- Rabier, D.;
- Chabli, A.;
- Blanc, A.;
- Aupetit, J.;
- Bardet, J.;
- Kamoun, P.
Publication type:
Article
GESTATIONAL AGE-RELATED REFERENCE VALUES FOR AMNIOTIC FLUID AMINO ACIDS: A USEFUL TOOL FOR PRENATAL DIAGNOSIS OF AMINOACIDOPATHIES.
Published in:
Prenatal Diagnosis, 1996, v. 16, n. 7, p. 623, doi. 10.1002/(SICI)1097-0223(199607)16:7<623::AID-PD921>3.0.CO;2-5
By:
- RABIER, D.;
- CHADEFAUX-VEKEMANS, B.;
- OURY, J. F.;
- AUPETIT, J.;
- BARDET, J.;
- GASQUET, M.;
- MERHAND, E.;
- PARVY, P.;
- KAMOUN, P.
Publication type:
Article
Prenatal diagnosis of combined methylmalonic aciduria and homocystinuria (cobalamin CblC or CblD mutant)
Published in:
1994
By:
- Chadefaux-Vekemans, B.;
- Rolland, M. O.;
- Lyonnet, S.;
- Rabier, D.;
- Divry, P.;
- Kamoun, P.
Publication type:
Case Study
Prenatal diagnosis of ornithine transcarbamylase deficiency: Results in SPF<sup>ASH</sup> mice.
Published in:
Prenatal Diagnosis, 1993, v. 13, n. 6, p. 441, doi. 10.1002/pd.1970130604
By:
- Monastiri, K.;
- Rabier, D.;
- Kamoun, P.
Publication type:
Article
Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
Published in:
Prenatal Diagnosis, 1993, v. 13, n. 2, p. 150, doi. 10.1002/pd.1970130213
By:
- Jakobs, C.;
- Ogier, H.;
- Rabier, D.;
- Gibson, K. M.
Publication type:
Article
Glycine/serine ratio and the prenatal diagnosis of non-ketotic hyperglycinaemia.
Published in:
1990
By:
- Parvy, P.;
- Rabier, D.;
- Boue, J.;
- Saudubray, J. M.;
- Kamoun, P.
Publication type:
journal article
Prenatal diagnosis of propionic acidemia: Amniocentesis at the 11th week of pregnancy.
Published in:
Prenatal Diagnosis, 1989, v. 9, n. 6, p. 448, doi. 10.1002/pd.1970090614
By:
- Chadefaux, B.;
- Rabier, D.;
- Bonnefont, J. P.;
- Jakobs, C.;
- Dumez, Y.;
- Kamoun, P.
Publication type:
Article
Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase.
Published in:
Prenatal Diagnosis, 1988, v. 8, n. 2, p. 161, doi. 10.1002/pd.1970080211
By:
- Chadefaux, B.;
- Augereau, C.;
- Rabier, D.;
- Rocchiccioli, F.;
- Boué, J.;
- Oury, J. F.;
- Kamoun, P.
Publication type:
Article
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (γ-hydroxybutyric aciduria).
Published in:
Developmental Medicine & Child Neurology, 2004, v. 46, n. 8, p. 564, doi. 10.1017/S0012162204000933
By:
- A Philippe;
- J Deron;
- D Geneviève;
- P de Lonlay;
- KM Gibson;
- D Rabier;
- A Munnich
Publication type:
Article
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria).
Published in:
2004
By:
- Philippe, A;
- Deron, J;
- Geneviève, D;
- de Lonlay, P;
- Gibson, K M;
- Rabier, D;
- Munnich, A
Publication type:
journal article
Ornithine transcarbamylase and disaccharidase activities in damaged intestinal mucosa of children--diagnosis of hereditary ornithine transcarbamylase deficiency in mucosa.
Published in:
1985
By:
- Cathelineau, L.;
- Briand, P.;
- Rabier, D.;
- Navarro, J.
Publication type:
journal article
Hypopigmentation in hemodialysis. Acquired hair and skin fairness in a uremic patient undergoing maintenance hemodialysis: case report and review of the literature.
Published in:
1996
By:
- Hmida, M B;
- Turki, H;
- Hachicha, J;
- Reygagne, P;
- Rabier, D;
- Zahaf, A;
- Jarraya, A
Publication type:
journal article
Hypopigmentation in Hemodialysis.
Published in:
Dermatology (10188665), 1996, v. 192, n. 2, p. 148, doi. 10.1159/000246345
By:
- Hmida, Ben;
- Turki, H.;
- Hachicha, J.;
- Reygagne, P.;
- Rabier, D.;
- Zahaf, A.;
- Jarraya, A.
Publication type:
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
Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture.
Published in:
Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 939, doi. 10.1007/s10545-012-9570-2
By:
- Servais, A.;
- Arnoux, J.;
- Lamy, C.;
- Hummel, A.;
- Vittoz, N.;
- Katerinis, I.;
- Bazzaoui, V.;
- Dubois, S.;
- Broissand, C.;
- Husson, M.;
- Berleur, M.;
- Rabier, D.;
- Ottolenghi, C.;
- Valayannopoulos, V.;
- Lonlay, P.
Publication type:
Article
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B<sub>12</sub>.
Published in:
Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 159, doi. 10.1007/s10545-009-1023-1
By:
- Valayannopoulos, V.;
- Hubert, L.;
- Benoist, J.;
- Romano, S.;
- Arnoux, J.;
- Chrétien, D.;
- Kaplan, J.;
- Fakhouri, F.;
- Rabier, D.;
- Rötig, A.;
- Lebre, A.;
- Munnich, A.;
- Keyzer, Y.;
- Lonlay, P.
Publication type:
Article
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.
Published in:
2005
By:
- Luttikhuis, H.;
- Touati, G.;
- Rabier, D.;
- Williams, M.;
- Jakobs, C.;
- Saudubray, J.
Publication type:
Report
Urea cycle defects: Management and outcome.
Published in:
Journal of Inherited Metabolic Disease, 2005, v. 28, n. 3, p. 407, doi. 10.1007/s10545-005-0303-7
By:
- Nassogne, M.;
- Héron, B.;
- Touati, G.;
- Rabier, D.;
- Saudubray, J.
Publication type:
Article
Methylmalonic and propionic acidaemias: Management and outcome.
Published in:
Journal of Inherited Metabolic Disease, 2005, v. 28, n. 3, p. 415, doi. 10.1007/s10545-005-7056-1
By:
- Baulny, H.;
- Benoist, J.;
- Rigal, O.;
- Touati, G.;
- Rabier, D.;
- Saudubray, J.
Publication type:
Article
The use of MapPop1.0 for choosing a QTL mapping sample from an advanced backcross population.
Published in:
Theoretical & Applied Genetics, 2007, v. 114, n. 6, p. 1019, doi. 10.1007/s00122-006-0495-8
By:
- Birolleau-Touchard, C.;
- Hanocq, E.;
- Bouchez, A.;
- Bauland, C.;
- Dourlen, I.;
- Seret, J.-P.;
- Rabier, D.;
- Hervet, S.;
- Allienne, J.-F.;
- Lucas, Ph.;
- Jaminon, O.;
- Etienne, R.;
- Baudhuin, G.;
- Giauffret, C.
Publication type:
Article
Gestational age-related reference values for amniotic fluid organic acids.
Published in:
Prenatal Diagnosis, 2010, v. 30, n. 1, p. 43, doi. 10.1002/pd.2414
By:
- Ottolenghi, C.;
- Abermil, N.;
- Lescoat, A.;
- Aupetit, J.;
- Beaugendre, O.;
- Morichon-Delvallez, N.;
- Ricquier, D.;
- Chadefaux-Vekemans, B.;
- Rabier, D.
Publication type:
Article
Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: report of a 15 years, experience.
Published in:
Prenatal Diagnosis, 2006, v. 26, n. 9, p. 814, doi. 10.1002/pd.1509
By:
- Chadefaux-Vekemans, B.;
- Rabier, D.;
- Cadoudal, N.;
- Lescoat, A.;
- Chabli, A.;
- Aupetit, J.;
- Dumez, Y.;
- Oury, J. F.
Publication type:
Article
Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis.
Published in:
2002
By:
- Odievre, M. H.;
- Sevin, C.;
- Laurent, J.;
- Laboureau, J. P.;
- Rabier, D.;
- Brivet, M.;
- Roe, C.;
- Wanders, R. J. A.;
- Saudubray, J. M.
Publication type:
journal article
Clinical approach to inherited peroxisomal disorders: A series of 27 patients.
Published in:
Annals of Neurology, 1998, v. 44, n. 5, p. 720, doi. 10.1002/ana.410440505
By:
- Baumgartner, M. R.;
- Poll-The, B. T.;
- Verhoeven, N. M.;
- Jakobs, C.;
- Espeel, M.;
- Roels, F.;
- Rabier, D.;
- Levade, T.;
- Rolland, M. O.;
- Martinez, M.;
- Wanders, R. J. A.;
- Saudubray, J. M.
Publication type:
Article

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