Search Results - "DE LONLAY, P"

Early and Late Complications After Liver Transplantation for Propionic Acidemia in Children: A Two Centers Study by 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.

“…Propionic acidemia (PA) is a severe metabolic disorder with cardiac and neurologic complications and a poor quality of life. Liver transplantation (LT) was…”
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Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients by 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.

“…Lipoic acid (LA) is the cofactor of the E2 subunit of mitochondrial ketoacid dehydrogenases and plays a major role in oxidative decarboxylation. De novo LA…”
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Morphological Mosaicism of the Pancreatic Islets: A Novel Anatomopathological Form of Persistent Hyperinsulinemic Hypoglycemia of Infancy by Sempoux, C, Capito, C, Bellanné-Chantelot, C, Verkarre, V, de Lonlay, P, Aigrain, Y, Fekete, C, Guiot, Y, Rahier, J

“…Background: Morphological studies of the pancreas in persistent hyperinsulinemic hypoglycemia of infancy (PHHI) have focused on the diagnosis of focal vs…”
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Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations by Bricout, M, Grévent, D, Lebre, A S, Rio, M, Desguerre, I, De Lonlay, P, Valayannopoulos, V, Brunelle, F, Rötig, A, Munnich, A, Boddaert, N

“…Mitochondrial diseases are characterised by a broad clinical and genetic heterogeneity that makes diagnosis difficult. Owing to the wide pattern of symptoms in…”
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Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis by 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.

“…Pyruvate carboxylase (PC) is a biotin-containing mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, thereby being involved in…”
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Acute Psychosis in Propionic Acidemia: 2 Case Reports 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

“…Propionic acidemia is an inborn deficiency of propionyl–coenzyme A (CoA) carboxylase activity, which leads to mitochondrial accumulation of propionyl-CoA and…”
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Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism 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.

“…ABCC8 encodes a subunit of the β‐cell potassium channel (KATP) whose loss of function is responsible for congenital hyperinsulinism (CHI). Patients with two…”
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Chromosome 11p15 Paternal Isodisomy in Focal Forms of Neonatal Hyperinsulinism 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.

“…Context: Focal forms of congenital hyperinsulinism are due to a constitutional heterozygous mutation of paternal origin in the ABCC8 gene, more often than the…”
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Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients by 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.

“…Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive inborn error of metabolism, affecting catecholamines and serotonin…”
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The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency by Chol, M, Lebon, S, Bénit, P, Chretien, D, de Lonlay, P, Goldenberg, A, Odent, S, Hertz-Pannier, L, Vincent-Delorme, C, Cormier-Daire, V, Rustin, P, Rötig, A, Munnich, A

“…Leigh syndrome is a subacute necrotising encephalomyopathy frequently ascribed to mitochondrial respiratory chain deficiency. This condition is genetically…”
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Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency by Brault, C., Maizel, Julien, Sevestre, H., Gourguechon, C., De Lonlay, P., Wicker, C., Acquaviva, Cécile, Bouchereau, J., Dernoncourt, A., Merle, P.-E.

“…Background. Multiple acyl-coA dehydrogenase deficiency (MADD) is a rare, inherited, autosomal-recessive disorder leading to the accumulation of acylcarnitine…”
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The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib by de Lonlay, P., Seta, N.

“…Phosphomannose isomerase (PMI) deficiency or congenital disorders of glycosylation type Ib (CDG Ib) is the only CDG that can be treated. Despite variable…”
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The surgical management of congenital hyperinsulinemic hypoglycemia in infancy by Fékété, C.Nihoul, de Lonlay, P, Jaubert, F, Rahier, Jacques, Brunelle, F, Saudubray, J.M

“…Congenital hyperinsunlinism (CHI) is characterized by profound hypoglycaemia caused by inappropriate insulin secretion. CHI is a heterogeneous disorder with at…”
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Long-term Follow-up of Neonatal Mitochondrial Cytopathies: A Study of 57 Patients by Garcia-Cazorla, A, De Lonlay, P, Nassogne, M.C, Rustin, P, Touati, G, Saudubray, J.M

“…We sought to determine the long-term clinical and biochemical outcome of newborns with mitochondrial cytopathies (MCs) and to identify possible prognostic…”
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Development of liver disease despite mannose treatment in two patients with CDG-Ib by 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

“…We report here the 6- and 2-year follow-up of two patients diagnosed at 2 months of age with CDG-Ib who were treated with mannose, with digestive symptoms,…”
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Clinical phenotype associated with TANGO2 gene mutation by Hoebeke, C., Cano, A., De Lonlay, P., Chabrol, B.

“…The clinical picture associated with a Transport and Golgi Organization 2 (TANGO2) gene bi-allelic mutation is represented by encephalopathy and rhabdomyolysis…”
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Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management by 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.

“…Patients with PMM2-CDG develop acute events (stroke-like episodes (SLEs), thromboses, haemorrhages, seizures, migraines) associated with both clotting factors…”
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An Activating Mutation of AKT2 and Human Hypoglycemia by 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.

“…Pathological fasting hypoglycemia in humans is usually explained by excessive circulating insulin or insulin-like molecules or by inborn errors of metabolism…”
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Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling by 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

“…Mitochondrial respiratory chain (RC) disorders are the most prevalent inborn metabolic diseases and remain without effective treatment to date. Up-regulation…”
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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders by Mollet, Julie, Giurgea, Irina, Schlemmer, Dimitri, Dallner, Gustav, Chretien, Dominique, Delahodde, Agnès, Bacq, Delphine, de Lonlay, Pascale, Munnich, Arnold, Rötig, Agnès

“…Coenzyme Q10 (CoQ10) plays a pivotal role in oxidative phosphorylation (OXPHOS), as it distributes electrons among the various dehydrogenases and the…”
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