Search Results - "Rolland, Marie Odile"

Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation by Korman, Stanley H., Wexler, Isaiah D., Gutman, Alisa, Rolland, Marie-Odile, Kanno, Junko, Kure, Shigeo

“…Objective To determine whether the devastating outcome of neonatal‐onset glycine encephalopathy (NKH) could be improved by instituting treatment immediately at…”
Get full text

Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period by Jimenez-Mallebrera, Cecilia, Nascimento, Andres, Cusi, Victoria, Corbera, Joan Ramon, Rolland, Marie-Odile, Froissart, Rosaline, Olivé, Montse, Ferrer, Isidro, Colomer, Jaume

Get full text

Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome by Harambat, Jérôme, Fargue, Sonia, Acquaviva, Cécile, Gagnadoux, Marie-France, Janssen, Françoise, Liutkus, Aurélia, Mourani, Chebl, Macher, Marie-Alice, Abramowicz, Daniel, Legendre, Christophe, Durrbach, Antoine, Tsimaratos, Michel, Nivet, Hubert, Girardin, Eric, Schott, Anne-Marie, Rolland, Marie-Odile, Cochat, Pierre

“…We sought to ascertain the long-term outcome and genotype–phenotype correlations available for primary hyperoxaluria type 1 in a large retrospective cohort…”
Get full text

Primary hyperoxaluria in infants: Medical, ethical, and economic issues by Cochat, Pierre, Koch Nogueira, Paulo C., Mahmoud, M.Ayman, Jamieson, Neville V., Scheinman, Jon I., Rolland, Marie-Odile

“…Objectives: Survey on the current medical approach to and the economic issues affecting infants with primary hyperoxaluria type 1. Methods: Questionnaire to…”
Get full text

Allogeneic Bone Marrow Transplantation in Mevalonic Aciduria by Neven, Bénédicte, Valayannopoulos, Vassili, Quartier, Pierre, Blanche, Stéphane, Prieur, Anne-Marie, Debré, Marianne, Rolland, Marie-Odile, Rabier, Daniel, Cuisset, Laurence, Cavazzana-Calvo, Marina, de Lonlay, Pascale, Fischer, Alain

“…Mevalonic aciduria is a rare, inborn error of isoprene biosynthesis characterized by severe, periodic attacks of fever and inflammation, developmental delay,…”
Get full text

Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1 by Chevalier‐Porst, Françoise, Rolland, Marie‐Odile, Cochat, Pierre, Bozon, Dominique

“…Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder of glyoxylate metabolism, in which excessive oxalates are formed by the liver and…”
Get full text

Effect of conservative treatment on the renal outcome of children with primary hyperoxaluria type 1 by Fargue, Sonia, Harambat, Jérôme, Gagnadoux, Marie-France, Tsimaratos, Michel, Janssen, Françoise, Llanas, Brigitte, Berthélémé, Jean-Pierre, Boudailliez, Bernard, Champion, Gérard, Guyot, Claude, Macher, Marie-Alice, Nivet, Hubert, Ranchin, Bruno, Salomon, Rémi, Taque, Sophie, Rolland, Marie-Odile, Cochat, Pierre

“…Primary hyperoxaluria type 1 results from alanine:glyoxylate aminotransferase deficiency. Due to genotype/phenotype heterogeneity in this autosomal recessive…”
Get full text

Primary hyperoxaluria type 1: still challenging by Cochat, Pierre, Liutkus, Aurélia, Fargue, Sonia, Basmaison, Odile, Ranchin, Bruno, Rolland, Marie-Odile

“…Primary hyperoxaluria type 1, the most common form of primary hyperoxaluria, is an autosomal recessive disorder caused by a deficiency of the liver-specific…”
Get full text

Reversal of Early Neurologic and Neuroradiologic Manifestations of X-Linked Adrenoleukodystrophy by Bone Marrow Transplantation by Aubourg, Patrick, Blanche, Stéphane, Jambaqué, Isabelle, Rocchiccioli, Francis, Kalifa, Gabriel, Naud-Saudreau, Catherine, Rolland, Marie-Odile, Debré, Mariane, Chaussain, Jean-Louis, Griscelli, Claude, Fischer, Alain, Bougnères, Pierre-François

“…X-LINKED adrenoleukodystrophy is an inherited peroxisomal disease caused by a defective gene located within the Xq28 region of the X chromosome. 1 Childhood…”
Get full text

Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations by Kure, Shigeo, Rolland, Marie-Odile, Leisti, Jaako, Mandel, Hanna, Sakata, Yoshiyuki, Tada, Keiya, Matsubara, Yoichi, Narisawa, Kuniaki

“…Prenatal diagnosis for non‐ketotic hyperglycinaemia (NKH) was performed by enzymatic analysis of chorionic villus samples in 28 families and by DNA analysis in…”
Get full text

Muscle phosphorylase b kinase deficiency revisited by Echaniz-Laguna, Andoni, Akman, Hasan O, Mohr, Michel, Tranchant, Christine, Talmant-Verbist, Violaine, Rolland, Marie-Odile, Dimauro, Salvatore

“…Abstract Muscle phosphorylase b kinase (PHK) deficiency (glycogenosis type VIII) is a rare disorder caused by mutations in the PHKA1 gene encoding the αM…”
Get full text

Association of Adult-Onset Glycogenosis Type II and a Mutation in the LMNA Gene in Two Patients: Different Clinical and Histological Phenotypes by Chapon, Françoise, Richard, Pascale, Reznik, Y, Allouche, Stéphane, Leroy, François, Bonne, Gisèle, Rolland, Marie-Odile

Get full text

Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy) by Applegarth, Derek A., Rolland, Marie-Odile, Toone, Jennifer R., Coulter-Mackie, Marion, Saura, Robert

Get full text

Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency by Fukao, Toshiyuki, Zhang, Gaixiu, Rolland, Marie-Odile, Zabot, Marie-Therese, Guffon, Nathalie, Aoki, Yusuke, Kondo, Naomi

“…A tandem repeat of exons 8 and 9 was identified in the cDNA for mitochondrial acetoacetyl-CoA thiolase (T2) in a typical T2 deficient patient. Routine mutation…”
Get full text

A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency by Fukao, Toshiyuki, Sakurai, Satomi, Rolland, Marie-Odile, Zabot, Marie-Therese, Schulze, Andreas, Yamada, Keitaro, Kondo, Naomi

“…Succinyl-CoA: 3-ketoacid-CoA transferase (SCOT; locus symbol OXCT, EC 2.8.3.5) deficiency is a rare genetic disorder affecting ketone body utilization in…”
Get full text

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with mild mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA by GAI XIU ZHANG, FUKAO, Toshiyuki, ROLLAND, Marie-Odile, ZABOT, Marie-Therese, RENOM, Gilles, TOUMA, Elias, KONDO, Masashi, MATSUO, Naoki, KONDO, Naomi

“…Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism that affects the catabolism of isoleucine and ketone bodies. This…”
Get full text

A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation by Schiff, Manuel, Levrat, Virginie, Acquaviva, Cécile, Vianey-Saban, Christine, Rolland, Marie-Odile, Guffon, Nathalie

“…Pyruvate carboxylase (PC) is a key enzyme for gluconeogenesis and anaplerotic pathways in brain. PC deficiency is a rare autosomal recessive neurometabolic…”
Get full text

An atypical French form of pyruvate carboxylase deficiency by Pineda, Merce, Campistol, Jaume, Vilaseca, M. Antonia, Briones, Paz, Ribes, Antonia, Temudo, Teresa, Pons, Marti, Cusi, Victoria, Rolland, Marie-Odile

“…A further case of pyruvate carboxylase deficiency, French type, with a particular clinical presentation and evolution is described. The initial neonatal…”
Get full text

A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient by Touraine, R L, Rolland, M O, Divry, P, Mathieu, M, Guibaud, P, Bozon, D

Get more information

Retroviral-Mediated Gene Transfer Corrects Very-Long-Chain Fatty Acid Metabolism in Adrenoleukodystrophy Fibroblasts by Cartier, Nathalie, Lopez, Jacqueline, Moullier, Philippe, Rocchiccioli, Francis, Rolland, Marie-Odile, Jorge, Paula, Mosser, Jean, Mandel, Jean-Louis, Bougneres, Pierre-Francois, Danos, Olivier, Aubourg, Patrick

“…Adrenoleukodystrophy (ALD), a lethal demyelinating disease of the brain, is caused by mutations of a gene encoding an ATP-binding transporter, called ALDP,…”
Get full text