Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study
Charbit‐Henrion, F., Lacaille, F., McKiernan, P., Girard, M., de Lonlay, P., Valayannopoulos, V., Ottolenghi, C., Chakrapani, A., Preece, M., Sharif, K., Chardot, C., Hubert, P., Dupic, L.
Published in American journal of transplantation (01.03.2015)
Published in American journal of transplantation (01.03.2015)
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Journal Article
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients
Lebigot, E., Gaignard, P., Dorboz, I., Slama, A., Rio, M., de Lonlay, P., Héron, B., Sabourdy, F., Boespflug-Tanguy, O., Cardoso, A., Habarou, F., Ottolenghi, C., Thérond, P., Bouton, C., Golinelli-Cohen, M.P., Boutron, A.
Published in Molecular genetics and metabolism (01.11.2017)
Published in Molecular genetics and metabolism (01.11.2017)
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Journal Article
Morphological Mosaicism of the Pancreatic Islets: A Novel Anatomopathological Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy
Sempoux, C, Capito, C, Bellanné-Chantelot, C, Verkarre, V, de Lonlay, P, Aigrain, Y, Fekete, C, Guiot, Y, Rahier, J
Published in The journal of clinical endocrinology and metabolism (01.12.2011)
Published in The journal of clinical endocrinology and metabolism (01.12.2011)
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Journal Article
Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations
Bricout, M, Grévent, D, Lebre, A S, Rio, M, Desguerre, I, De Lonlay, P, Valayannopoulos, V, Brunelle, F, Rötig, A, Munnich, A, Boddaert, N
Published in Journal of Medical Genetics (01.07.2014)
Published in Journal of Medical Genetics (01.07.2014)
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Journal Article
Book Review
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis
Habarou, F., Brassier, A., Rio, M., Chrétien, D., Monnot, S., Barbier, V., Barouki, R., Bonnefont, J.P., Boddaert, N., Chadefaux-Vekemans, B., Le Moyec, L., Bastin, J., Ottolenghi, C., de Lonlay, P.
Published in Molecular genetics and metabolism (01.03.2015)
Published in Molecular genetics and metabolism (01.03.2015)
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Journal Article
Acute psychosis in propionic acidemia: 2 case reports
Dejean de la Bâtie, C, Barbier, V, Valayannopoulos, V, Touati, G, Maltret, A, Brassier, A, Arnoux, J B, Grévent, D, Chadefaux, B, Ottolenghi, C, Canouï, P, de Lonlay, P
Published in Journal of child neurology (01.02.2014)
Published in Journal of child neurology (01.02.2014)
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Journal Article
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism
Saint-Martin, C., Zhou, Q., Martin, G.M., Vaury, C., Leroy, G., Arnoux, J.-B., de Lonlay, P., Shyng, S.-L., Bellanné-Chantelot, C.
Published in Clinical genetics (01.05.2015)
Published in Clinical genetics (01.05.2015)
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Journal Article
Chromosome 11p15 Paternal Isodisomy in Focal Forms of Neonatal Hyperinsulinism
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.
Published in The journal of clinical endocrinology and metabolism (01.12.2008)
Published in The journal of clinical endocrinology and metabolism (01.12.2008)
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Journal Article
Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients
Spitz, M. A., Nguyen, M. A., Roche, S., Heron, B., Milh, M., de Lonlay, P., Lion-François, L., Testard, H., Napuri, S., Barth, M., Fournier-Favre, S., Christa, L., Vianey-Saban, C., Corne, C., Roubertie, A.
Published in JIMD Reports, Volume 31 (01.01.2017)
Published in JIMD Reports, Volume 31 (01.01.2017)
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Book Chapter
Journal Article
Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency
Brault, C., Maizel, Julien, Sevestre, H., Gourguechon, C., De Lonlay, P., Wicker, C., Acquaviva, Cécile, Bouchereau, J., Dernoncourt, A., Merle, P.-E.
Published in Case Reports in Critical Care (2019)
Published in Case Reports in Critical Care (2019)
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Journal Article
The surgical management of congenital hyperinsulinemic hypoglycemia in infancy
Fékété, C.Nihoul, de Lonlay, P, Jaubert, F, Rahier, Jacques, Brunelle, F, Saudubray, J.M
Published in Journal of pediatric surgery (01.03.2004)
Published in Journal of pediatric surgery (01.03.2004)
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Journal Article
Long-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patients
García-Cazorla, A, De Lonlay, P, Nassogne, M C, Rustin, P, Touati, G, Saudubray, J M
Published in Pediatrics (Evanston) (01.11.2005)
Published in Pediatrics (Evanston) (01.11.2005)
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Journal Article
Development of liver disease despite mannose treatment in two patients with CDG-Ib
Mention, K., Lacaille, F., Valayannopoulos, V., Romano, S., Kuster, A., Cretz, M., Zaidan, H., Galmiche, L., Jaubert, F., Keyzer, Y. de, Seta, N., Lonlay, P. de
Published in Molecular genetics and metabolism (2008)
Published in Molecular genetics and metabolism (2008)
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Journal Article
Clinical phenotype associated with TANGO2 gene mutation
Hoebeke, C., Cano, A., De Lonlay, P., Chabrol, B.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.01.2021)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.01.2021)
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Journal Article
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management
Wicker, Camille, Roux, Charles-Joris, Goujon, Louise, de Feraudy, Yvan, Hully, Marie, Brassier, Anais, Bérat, Claire-Marine, Chemaly, Nicole, Wiedemann, Arnaud, Damaj, Lena, Abi-Warde, Marie-Thérèse, Dobbelaere, Dries, Roubertie, Agathe, Cano, Aline, Arion, Alina, Kaminska, Anna, Da Costa, Sabrina, Bruneel, Arnaud, Vuillaumier-Barrot, Sandrine, Boddaert, Nathalie, Pascreau, Tiffany, Borgel, Delphine, Kossorotoff, Manoelle, Harroche, Annie, de Lonlay, P.
Published in Molecular genetics and metabolism (01.11.2023)
Published in Molecular genetics and metabolism (01.11.2023)
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Journal Article
An Activating Mutation of AKT2 and Human Hypoglycemia
Hussain, K., Challis, B., Rocha, N., Payne, F., Minic, M., Thompson, A., Daly, A., Scott, C., Harris, J., Smillie, B. J. L., Savage, D. B., Ramaswami, U., De Lonlay, P., O'Rahilly, S., Barroso, I., Semple, R. K.
Published in Science (American Association for the Advancement of Science) (28.10.2011)
Published in Science (American Association for the Advancement of Science) (28.10.2011)
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Journal Article
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders
Mollet, Julie, Giurgea, Irina, Schlemmer, Dimitri, Dallner, Gustav, Chretien, Dominique, Delahodde, Agnès, Bacq, Delphine, de Lonlay, Pascale, Munnich, Arnold, Rötig, Agnès
Published in The Journal of clinical investigation (01.03.2007)
Published in The Journal of clinical investigation (01.03.2007)
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Journal Article
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling
Lopes Costa, Alexandra, Le Bachelier, Carole, Mathieu, Lise, Rotig, Agnès, Boneh, Avihu, De Lonlay, Pascale, Tarnopolsky, Mark A, Thorburn, David R, Bastin, Jean, Djouadi, Fatima
Published in Human molecular genetics (15.04.2014)
Published in Human molecular genetics (15.04.2014)
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Journal Article
Hyperinsulinaemic Hypoglycaemia
Arya, V. B., Mohammed, Z., Blankenstein, O., De Lonlay, P., Hussain, K.
Published in Hormone and metabolic research (01.03.2014)
Published in Hormone and metabolic research (01.03.2014)
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Journal Article