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Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.
Published in:
Journal of Inherited Metabolic Disease, 2000, v. 23, n. 8, p. 819, doi. 10.1023/A:1026760602577
By:
- De Lonlay, P.;
- Nassogne, M.;
- van Gennip, A.;
- van Cruchten, A.;
- Billette de Villemeur, T.;
- Cretz, M.;
- Stoll, C.;
- Launay, J.;
- Steenberger-Spante, G.;
- van den Heuvel, L.;
- Wevers, R.;
- Saudubray, J.;
- Abeling, N.
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
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
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
Mutations in G6PC2 do not contribute to monogenic forms of early infancy diabetes and beta cell dysfunction.
Published in:
2009
By:
- Bonnefond, A.;
- Bouatia-Naji, N.;
- Simon, A.;
- Saint-Martin, C.;
- Dechaume, A.;
- Lonlay, P.;
- Polak, M.;
- Bellanné-Chantelot, C.;
- Froguel, P.;
- Vaxillaire, M.
Publication type:
Letter
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.
Published in:
European Journal of Pediatrics, 2000, v. 159, n. 1/2, p. 82, doi. 10.1007/PL00013810
By:
- Nuoffer, J. -M.;
- de Lonlay, P.;
- Costa, C.;
- Roe, C. R.;
- Chamoles, N.;
- Brivet, M.;
- Saudubray, J. M.
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
Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies.
Published in:
1998
By:
- Iserin, L.;
- de Lonlay, P.;
- Viot, G.;
- Sidi, D.;
- Kachaner, J.;
- Munnich, A.;
- Lyonnet, S.;
- Vekemans, M.;
- Bonnet, D.
Publication type:
journal article
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
Published in:
Clinical Genetics, 2015, v. 87, n. 5, p. 448, doi. 10.1111/cge.12428
By:
- Saint‐Martin, C.;
- Zhou, Q.;
- Martin, G.M.;
- Vaury, C.;
- Leroy, G.;
- Arnoux, J.‐B.;
- de Lonlay, P.;
- Shyng, S.‐L.;
- Bellanné‐Chantelot, C.
Publication type:
Article
Scalp-ear-nipple (Finlay–Marks) syndrome: a familial case with renal involvement.
Published in:
Clinical Genetics, 1999, v. 56, n. 2, p. 170, doi. 10.1034/j.1399-0004.1999.560216.x
By:
- Picard, C.;
- Couderc, S.;
- Skojaei, T.;
- Salomon, R.;
- de Lonlay, P.;
- Le Merrer, M.;
- Munnich, A.;
- Lyonnet, S.;
- Amiel, J.
Publication type:
Article
Increased paternal age in CHARGE association.
Published in:
Clinical Genetics, 1996, v. 50, n. 6, p. 548, doi. 10.1111/j.1399-0004.1996.tb02736.x
By:
- Tellier, A.L.;
- Lyonnet, S.;
- Cormier-Daire, V.;
- Lonlay, P.;
- Abadie, V.;
- Baumann, C.;
- Bonneau, D.;
- Labrune, Ph.;
- Lacombe, D.;
- Merrer, M. Le;
- Nivelon, A.;
- Philip, N.;
- Briard, M. L.;
- Munnich, A.
Publication type:
Article
Morphological Mosaicism of the Pancreatic Islets: A Novel Anatomopathological Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 12, p. 3785, doi. 10.1210/jc.2010-3032
By:
- Sempoux, C.;
- Capito, C.;
- Bellanné-Chantelot, C.;
- Verkarre, V.;
- Lonlay, P. de;
- Aigrain, Y.;
- Fekete, C.;
- Guiot, Y.;
- Rahier, J.
Publication type:
Article
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Published in:
2006
By:
- Barnérias C;
- Giurgea I;
- Hertz-Pannier L;
- Bahi-Buisson N;
- Boddaert N;
- Rustin P;
- Rotig A;
- Desguerre I;
- Munnich A;
- de Lonlay P
Publication type:
Journal 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
Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.
Published in:
2008
By:
- Damaj, L;
- le Lorch, M;
- Verkarre, V;
- Werl, C;
- Hubert, L;
- Nihoul-Fékété, C;
- Aigrain, Y;
- de Keyzer, Y;
- Romana, S P;
- Bellanne-Chantelot, C;
- de Lonlay, P;
- Jaubert, F
Publication type:
journal article
Efficiency of metabolic screening in childhood cardiomyopathies.
Published in:
European Heart Journal, 1998, v. 19, n. 5, p. 790, doi. 10.1053/euhj.1997.0818
By:
- Bonnet, D.;
- de Lonlay, P.;
- Gautier, I.;
- Rustin, P.;
- Rötig, A.;
- Kachaner, J.;
- Acar, P.;
- LeBidois, J.;
- Munnich, A.;
- Sidi, D.
Publication type:
Article
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Published in:
2012
By:
- Valayannopoulos V;
- Michot C;
- Rodriguez D;
- Hubert L;
- Saillour Y;
- Labrune P;
- de Laveaucoupet J;
- Brunelle F;
- Amiel J;
- Lyonnet S;
- Enza-Razavi F;
- Attié-Bitach T;
- Lacombe D;
- Bahi-Buisson N;
- Desguerre I;
- Chelly J;
- Burglen L;
- Boddaert N;
- de Lonlay P
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
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1162, doi. 10.1002/jimd.12066
By:
- Molema, Femke;
- Gleich, Florian;
- Burgard, Peter;
- Ploeg, Ans T.;
- Summar, Marshall L.;
- Chapman, Kimberly A.;
- Barić, Ivo;
- Lund, Allan M.;
- Kölker, Stefan;
- Williams, Monique;
- Hörster, F.;
- Jelsig, A.M.;
- Lonlay, P.;
- Wijburg, F.A.;
- Bosch, A.;
- Freisinger, P.;
- Posset, R.;
- Augoustides‐Savvopoulou, P.;
- Avram, P.;
- Deleanu, C.
Publication type:
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
Dominantly inherited hyperinsulinaemic hypoglycaemia.
Published in:
Journal of Inherited Metabolic Disease, 2005, v. 28, n. 3, p. 267, doi. 10.1007/s10545-005-7057-0
By:
- Lonlay, P.;
- Giurgea, I.;
- Sempoux, C.;
- Touati, G.;
- Jaubert, F.;
- Rahier, J.;
- Ribeiro, M.;
- Brunelle, F.;
- Nihoul-Fékété, C.;
- Robert, J.-J.;
- Saudubray, J.-M.;
- Stanley, C.;
- Bellanné-Chantelot, C.
Publication type:
Article
Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency.
Published in:
Case Reports in Critical Care, 2019, p. 1, doi. 10.1155/2019/1598213
By:
- Dernoncourt, A.;
- Bouchereau, J.;
- Acquaviva-Bourdain, C.;
- Wicker, C.;
- De Lonlay, P.;
- Gourguechon, C.;
- Sevestre, H.;
- Merle, P.-E.;
- Maizel, J.;
- Brault, C.
Publication type:
Article
The focal form of persistent hyperinsulinemic hypoglycemia of infancy: morphological and molecular studies show structural and functional differences with insulinoma.
Published in:
2003
By:
- Sempoux C;
- Guiot Y;
- Dahan K;
- Moulin P;
- Stevens M;
- Lambot V;
- de Lonlay P;
- Fournet J;
- Junien C;
- Jaubert F;
- Nihoul-Fekete C;
- Saudubray J;
- Rahier J;
- Sempoux, Christine;
- Guiot, Yves;
- Dahan, Karin;
- Moulin, Pierre;
- Stevens, Martine;
- Lambot, Virginie;
- de Lonlay, Pascale
Publication type:
journal article
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG.
Published in:
1999
By:
- Aebi, M.;
- Helenius, A.;
- Schenk, B.;
- Barone, R.;
- Fiumara, A.;
- Berger, E.G.;
- Hennet, T.;
- Imbach, T.;
- Stutz, A.;
- Bjursell, C.;
- Uller, A.;
- Wahlström, J.G.;
- Briones, P.;
- Cardo, E.;
- Clayton, P.;
- Winchester, B.;
- Cormier-Dalre, V.;
- Lonlay, P.;
- Cuer, M.;
- Dupré, T.
Publication type:
Letter
Liver transplantation for propionic acidemia: beware heart and psyche on the long term.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 2022, v. 74, p. 896, doi. 10.1097/MPG.0000000000003446
By:
- Sissaoui, S.;
- Brassier, A.;
- Khraiche, D.;
- Arnoux, J.-B.;
- Schiff, M.;
- Legendre, A.;
- Ouss-Ryngaert, E.;
- Servais, A.;
- Francoz, C.;
- Chardot, C.;
- Capito, C.;
- Girard, M.;
- Debray, D.;
- de Lonlay, P.;
- Lacaille, F.
Publication type:
Article
Methylmalonic acidemia: liver transplantation should be discussed early in life, before renal failure.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 2022, v. 74, p. 694, doi. 10.1097/MPG.0000000000003446
By:
- Sissaoui, S.;
- Brassier, A.;
- Schiff, M.;
- Arnoux, J.-B.;
- Servais, A.;
- Francoz, C.;
- Chardot, C.;
- Capito, C.;
- Girard, M.;
- Debray, D.;
- de Lonlay, P.;
- Lacaille, F.
Publication type:
Article
Acute Psychosis in Propionic Acidemia: 2 Case Reports.
Published in:
2014
By:
- Bâtie, C. Dejean de la;
- Barbier, V.;
- Valayannopoulos, V.;
- Touati, G.;
- Maltret, A.;
- Brassier, A.;
- Arnoux, J. B.;
- Grévent, D.;
- Chadefaux, B.;
- Ottolenghi, C.;
- Canouï, P.;
- Lonlay, P. de
Publication type:
Case Study
Glucose metabolism in 105 children and adolescents after pancreatectomy for congenital hyperinsulinism.
Published in:
2012
By:
- Beltrand J;
- Caquard M;
- Arnoux JB;
- Laborde K;
- Velho G;
- Verkarre V;
- Rahier J;
- Brunelle F;
- Nihoul-Fékété C;
- Saudubray JM;
- Robert JJ;
- de Lonlay P;
- Beltrand, Jacques;
- Caquard, Marylène;
- Arnoux, Jean-Baptiste;
- Laborde, Kathleen;
- Velho, Gilberto;
- Verkarre, Virginie;
- Rahier, Jacques;
- Brunelle, Francis
Publication type:
journal article
Predictive value of postoperative glycosuria after partial elective pancreatectomy in focal congenital hyperinsulinsim.
Published in:
2008
By:
- Khen-Dunlop N;
- Capito C;
- Valayannopoulos V;
- Elie C;
- Ribeiro M;
- Rahier J;
- Jaubert F;
- Robert J;
- Aigrain Y;
- de Lonlay P;
- Fékété CN
Publication type:
Journal Article

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