-
1Déficit en 3-HMG-CoA lyase à révélation tardive : savoir reconnaître une maladie rare mais traitable
المؤلفون: S. Pierron, M.-O. Rolland, C. Caruba, Guy Touati, C. Acquaviva, A. Khalfi, M. Moreigne, H. Giudicelli
المصدر: Archives de Pédiatrie. 17:10-13
مصطلحات موضوعية: Coma, medicine.medical_specialty, business.industry, Genetic disorder, Metabolic acidosis, Disease, Hypoglycemia, medicine.disease, Lyase, Gastroenterology, Internal medicine, Pediatrics, Perinatology and Child Health, Ketogenesis, Medicine, medicine.symptom, business, Rare disease
-
2
المؤلفون: E de Maistre, T. Lecompte, M.-O Rolland, M Vidailhet, S Fremont, M.-D Tur, P Franck
المصدر: La Revue de Médecine Interne. 25:150-153
مصطلحات موضوعية: Central nervous system disease, chemistry.chemical_compound, Homocysteine, chemistry, business.industry, Gastroenterology, Internal Medicine, medicine, Homocystinuria, medicine.disease, business, Connective tissue disease, Molecular biology
-
3
المؤلفون: G. Hüner, S Scholl, Ewa Pronicka, Jolanta Sykut-Cegielska, Terttu Suormala, S. Schweitzer, Anibh M. Das, E. R. Baumgartner, Magdalena Ugarte, T. Baykal, Barry Wolf, P Divry, M.-O Rolland, M. Demirkol, Kevin P. Jensen, Rachel Straussberg, Celia Pérez-Cerdá, Lina Basel-Vanagaite
المصدر: Molecular Genetics and Metabolism. 77:108-111
مصطلحات موضوعية: Genotype, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Biotin, Biology, medicine.disease_cause, Biochemistry, Amidohydrolases, Endocrinology, Genetics, medicine, Humans, Missense mutation, Frameshift Mutation, Molecular Biology, Gene, Sequence Deletion, chemistry.chemical_classification, Biotinidase Deficiency, Mutation, Biotinidase, Biotinidase deficiency, Infant, Newborn, Infant, medicine.disease, Amino acid, Phenotype, Amino Acid Substitution, chemistry, Child, Preschool
-
4
المؤلفون: S. Schweitzer, R. Burghard, J. M. Neuberger, M.-O. Rolland
المصدر: Journal of Inherited Metabolic Disease. 23:22-26
مصطلحات موضوعية: medicine.medical_specialty, Hyperglycinemia, Hyperglycinemia, Nonketotic, chemistry.chemical_compound, Epilepsy, Sodium Benzoate, Internal medicine, Genetics, medicine, Humans, Genetics (clinical), Psychomotor learning, Psychomotor retardation, business.industry, Infant, Electroencephalography, Dextromethorphan, medicine.disease, Hypsarrhythmia, Hypotonia, Endocrinology, chemistry, Anesthesia, Sodium benzoate, Female, medicine.symptom, business, medicine.drug
-
5
المؤلفون: K. Björkegren, C. Bergmark, U. de Faire, M. Azam Mansoor, A. Svardal, A. G. Bostom, R. Roubenoff, P. Dellaripa, M. R. Nadeau, P. Sutherland, P. W. F. Wilson, P. F. Jacques, J. Selhub, I. H. Rosenberg, J. T. Brosnan, B. Hall, D. Shemin, K. L. Lapane, R. R. Williams, R. C. Ellison, G. J. Cuskelly, H. McNulty, J. J. Strain, J. M. McPartlin, J. M. Scott, B. Chadefaux-Vekemans, M. Coudé, J. Aupetit, P. Kamoun, B. Aral, M. T. Zabot, R. Calaf, O. Ghiringelli, A. Barlatier, P. Charpiot, P. H. Rolland, D. Garçon, T. Augier, C. Chareyre, A. Chango, F. Hodez, H. Tronel, G. Nuel, F. Michel, S. Frémont, L. Méjean, J. P. Nicolas, M. Candito, P. Chambon, P. Gibelin, J. Amsellem, M. Baudouy, P. Morand, D. Pringuey, V. Aubin-Brunet, F. Beaulieu, G. Darcourt, P. Bedoucha, H. Alchaar, M. Chatel, H. W. de Valk, R. van der Griend, M. K. G. van Eeden, E. de Groot, M. Duran, J. A. M. Smeitink, J. B. C. de Klerk, D. Wittebol-Post, M. -O. Rolland, F. J. L. M. Haas, O. J. A. Th. Meuwissen, J. D. Banga, B. T. Poll-The, J. I. P. de Vries, G. A. Dekker, H. P. van Geijn, P. C. Huigens, C. Jakobs, B. M. E. von Blomberg, R. Deulofeu, M. Giralt, C. Aibar, C. Bauchet, A. M. Ballesta, G. Varela, N. Vila, A. Chamorro, F. J. Casals, J. Diaz Cremades, L. Daly, R. Meleady, I. Graham, M. den Heijer, I. A. Brouwer, W. B. J. Gerrits, G. M. J. Bos, H. J. Blom, T. Koster, J. P. Vandenbroucke, E. Briët, F. R. Rosendaal, G. Fischer, C. Behrend, P. Bartholmes, I. Fermo, R. Paroni, S. Vigano, A. D’Angelo, D. G. Franken, G. H. J. Boers, B. C. J. Hamel, J. H. J. Ruijs, A. Tangerman, A. B. Guttormsen, P. M. Ueland, H. Refsum, E. Svarstad, W. Gao, E. Goldman, H. Jakubowski, G. Sebastio, M. P. Sperandeo, R. de Franchis, G. Andria, T. A. Garrow, J. Hladovec, Z. Sommerova, A. Písariková, C. H. Halsted, J. Villanueva, C. J. Chandler, S. P. Stabler, R. H. Allen, L. Muskhelishvili, S. J. James, L. Poirer, D. W. Jacobsen, S. R. Savon, P. E. DiCorleto, D. Jourdheuil-Rahmani, E. Joosten, R. Riezler, R. Allen, T. Marquardt, K. Ullrich, E. Harms, H. G. Koch, S. Evers, K. H. Grotemeyer, L. Vogelpohl, A. von Eckardstein, T. Deufel, J. Kraus, V. Kozich, M. Janosik, J. Sokolová, G. Bukovská, J. P. Kraus, L. A. J. Kluitmans, L. P. van den Heuvel, E. Stevens, J. M. F. Trubels, B. A. van Oost, S. Kittner, R. Macko, J. R. Hebel, J. Rohr, M. R. Malinow, B. Upson, D. Buchholz, C. Earley, C. Johnson, T. R. Price, J. Rosario, M. Sloan, B. Stern, R. Wityk, M. Wozniak, R. Sherwin, P. Stolley, L. Kluijtmans, L. van den Heuvel, F. Trijbels, H. Blom, G. Boers, B. van Oost, R. Rozen, F. Löhrer, C. Angst, B. Fowler, M. Zaugg, F. Brunner, W. E. Haefeli, B. Nedrebø, U. -B. Ericsson, E. A. Lien, J. London, E. Paly, V. Paul, D. Paris, J. F. Chassé, J. Møller, K. Rasmussen, P. Verhoef, K. E. McMartin, T. J. Phifer, J. S. Alexander, M. Middlebrooks, L. E. Childress, S. Fremont, F. Felden, B. Guerci, C. Creton, P. Drouin, G. P. Oakley, P. R. P. Elias, A. C. Hann, C. G. Curtis, F. A. Rose, N. Tudball, F. Parrot-Roulaud, C. Cochet, B. Catargi, F. Leprat, J. -L. Latapie, A. F. Perna, N. G. De Santo, D. Ingrosso, P. Galletti, V. Zappia, G. Sassoust, P. Boissieras, A. K. Majors, L. A. Ehrhart, E. H. Pezacka, I. J. Perry, R. W. Morris, S. B. Ebrahim, A. G. Shaper, K. Pietrzik, J. Dierkes, M. Kroesen, P. Bung, J. Moller, A. Remacha, F. Garcia-Die, J. Cadafalch, H. J. Barceló, H. Parellada, B. Regland, C. -G. Gottfries, M. Andersson, J. Bagby, L. -E. Dyrehag, L. Abrahamsson, E. Ronge, B. Kjellman, P. Frosst, B. Christensen, P. Goyette, D. S. Rosenblatt, J. Genest, B. Riedel, A. M. Svardal, J. Silberberg, R. Crooks, J. Fryer, C. Ray, X. W. Guo, L. Xie, N. Dudman, X. Guo, B. Smith, D. Kohlman-Trigoboff, S. Simsir, A. J. C. Strydom, E. Schlüssel, G. Preibisch, E. F. E. Elstner, S. Pütter, M. D. E. H. Spuijbroek, T. A. W. Goddijn-Wessel, M. G. A. J. Wouters, E. F. v. d. Molen, R. P. M. Steegers-Theunissen, J. M. F. Trijbels, C. M. G. Thomas, T. K. A. B. Eskes, M. Y. Tsai, N. Hanson, N. Key, K. Schwichtenberg, U. Garg, L. Todesco, N. Pollaert, B. Thorand, M. Hages, W. Holzgreve, M. J. van der Mooren, L. A. Schellekens, R. Rolland, N. v. d. Put, L. v. d. Heuvel, T. Eskes, R. Steegers-Theunissen, E. Mariman, M. d. Heyer, R. Daher, F. Van Lente, A. B. Vilkovsky, I. V. Maev, E. L. Richter, M. D. Kirnus, G. Varela-Moreiras, E. Alonso-Aperte, M. Rubio, M. Gassó, L. Alvarez, J. Caballeria, J. Rodés, J. M. Mato, L. A. G. J. M. van Aerts, J. H. J. Copius Peereboom-Stegeman, J. Noordhoek, L. P. v. d. Heuvel, L. A. H. Monnens, C. van Guidener, M. J. F. M. Janssen, J. Surachno, C. D. A. Stehouwer, M. van den Berg, E. Bierdrager, J. A. Rauwerda, B. Wilcken, J. Hammond, C. J. C. M. Hamilton, G. F. Borm, H. Wang, J. -C. Tsai, M. A. Perrella, M. Yoshizumi, N. E. S. Sibinga, E. Haber, T. H. -T. Chang, R. Schlegel, M. -E. Lee, J. Woodside, D. McMaster, J. Yarnell, I. Young, C. Mercer, K. Byrne, A. Evans, F. Gey, X. M. Gao, G. Dougan, P. Wordsworth, A. McMichael, P. B. Young, D. G. Kennedy, A. M. Molloy, P. Ward, E. Naughten, S. Cahalane, D. Murphy, P. Mayne, P. Chauveau, P. Jungers, D. Z. B. van Asselt, G. M. de Wild, W. A. van Staveren, W. H. L. Hoefnagels, M. Naruszewicz, A. Staniewicz, K. Dziewanowski, J. Evrovski, D. E. C. Cole, Michael Callaghan, A. Lindgren, L. Brattström, B. Hultberg, C. H. Hennekens, W. C. Willett, M. J. Stampfer, F. Frantzen, E. Sundrehagen, F. J. Kok, J. M. Gaziano, R. D. Reynolds, R. -J. Hsu, B. Shane, K. Robinson, K. Kottke-Marchant, R. Green, A. Gupta, D. Jacobsen, E. Mayer, D. Miller, K. Marchant, R. Greene, Y. -Y. Chong, M. Gupta, C. A. Sheppard, R. G. Matthews, H. A. C. M. Kruyssen, J. C. M. Witteman, C. Boushey, S. Beresford, G. Omenn, A. G. Motulsky, O. Nygard, S. E. Vollset, G. Kvale, I. Stensvold, T. Fiskerstrand, K. H. Bugge, A. Oshaug, C. H. Bjønnes, J. T. Wu, L. L. Wu, L. W. Wilson
المصدر: Irish Journal of Medical Science. 164:56-83
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Family medicine, Medicine, General Medicine, Homocysteine metabolism, business
-
6
المؤلفون: M. O. Rolland, F. Straehli, Jean Deschatrette, J. P. Carreau, T. Hashimoto, Bachir El Bioukar, K. Heng Ng
المصدر: Journal of Inherited Metabolic Disease. 17:41-59
مصطلحات موضوعية: Erucic Acids, Immunoblotting, Fluorescent Antibody Technique, Biology, Transfection, Microbodies, Cell Line, chemistry.chemical_compound, Albumins, Peroxisomal disorder, Genetics, medicine, Humans, Genetics (clinical), chemistry.chemical_classification, Zellweger syndrome, Infant, Newborn, Fatty acid, DNA, Fibroblasts, Peroxisome, medicine.disease, Immunohistochemistry, Lipids, Infantile Refsum disease, chemistry, Biochemistry, Erucic acid, Cell culture, Mutation, Autoradiography, Refsum Disease, Acyltransferases, Biomarkers, Neonatal adrenoleukodystrophy
-
7
المؤلفون: P. B. Toft, R. Geiß-Holtorff, M. O. Rolland, O. Pryds, W. Müller-Forell, E. Christensen, W. Lehnert, H. C. Lou, D. Ott, J. Hennig, O. Henriksen
المصدر: European Journal of Pediatrics. 152:750-753
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Canavan Disease, Striatum, Amidohydrolases, Choline, White matter, Myelin, chemistry.chemical_compound, Degenerative disease, medicine, Humans, Child, Aspartic Acid, medicine.diagnostic_test, business.industry, Brain, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Corpus Striatum, Canavan disease, medicine.anatomical_structure, nervous system, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Aspartoacylase activity, business, Myelin Proteins
-
8
المؤلفون: S, Pierron, H, Giudicelli, M, Moreigne, A, Khalfi, G, Touati, C, Caruba, M-O, Rolland, C, Acquaviva
المصدر: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 17(1)
مصطلحات موضوعية: Chromosome Aberrations, Male, DNA Mutational Analysis, Oxo-Acid-Lyases, Genes, Recessive, Exons, Sequence Analysis, DNA, Combined Modality Therapy, Polymerase Chain Reaction, Hypoglycemia, Meglutol, Rare Diseases, Leucine, Carnitine, Child, Preschool, Diet, Protein-Restricted, Humans, Amino Acid Metabolism, Inborn Errors, Alleles
-
9
المؤلفون: G. Mandon, G. Sournies, P. Guibaud, J. M. Thoulon, P. Divry, M. Mathieu, M. O. Rolland
المصدر: Journal of Inherited Metabolic Disease. 13:345-348
مصطلحات موضوعية: medicine.medical_specialty, Methylmalonyl-CoA Decarboxylase, Amniotic fluid, Carboxy-Lyases, Phenylalanine, Prenatal diagnosis, Pregnancy, Prenatal Diagnosis, Genetics, Humans, Medicine, Sampling (medicine), Metabolic disease, Amino Acid Metabolism, Inborn Errors, Cells, Cultured, Genetics (clinical), business.industry, Obstetrics, Amniotic Fluid, medicine.disease, medicine.anatomical_structure, Chorionic villi, Female, Chorionic Villi, Propionates, business, Propionic acidaemia
-
10
المؤلفون: Nathalie Ravet, Laurence Cuisset, S. Rouaghe, Marc Delpech, M.-O. Rolland, W. Ammouri, Gilles Grateau
المصدر: Rheumatology (Oxford, England). 46(10)
مصطلحات موضوعية: Male, Population, Immunoglobulin D, Sensitivity and Specificity, Rheumatology, medicine, Humans, Pharmacology (medical), Clinical significance, Prospective Studies, education, Child, education.field_of_study, Mevalonate kinase deficiency, biology, business.industry, Hyper-IgD syndrome, Mevalonate kinase, medicine.disease, Familial Mediterranean Fever, Phosphotransferases (Alcohol Group Acceptor), Mevalonic aciduria, Child, Preschool, Immunology, Mutation, biology.protein, Female, Mevalonate Kinase Deficiency, Periodic fever syndrome, business, Biomarkers
-
11
المؤلفون: S, Flavier, M O, Rolland, M, Eude, C, Fédou, J F, Brun, I, Maire, J, Mercier, E, Raynaud
المصدر: Annales de biologie clinique. 65(5)
مصطلحات موضوعية: Heterozygote, Phosphorylases, Pulmonary Gas Exchange, Middle Aged, Mutation, Exercise Test, Glycogen Phosphorylase, Muscle Form, Glycogen Storage Disease Type V, Humans, Female, Lactic Acid, Muscle, Skeletal, Creatine Kinase, Glycogen
-
12
المؤلفون: V. Bonnet, Roseline Froissart, David Cheillan, C. Conter, I. Maire, M. O. Rolland
المصدر: Journal of inherited metabolic disease. 29(1)
مصطلحات موضوعية: Male, Hyperglycinemia, Nonketotic, RNA Splicing, Nonsense mutation, DNA Mutational Analysis, Glycine, Biology, medicine.disease_cause, Glycine encephalopathy, Genetics, medicine, Intronic Mutation, Humans, Allele, Gene, Genetics (clinical), Alleles, Chromatography, High Pressure Liquid, DNA Primers, Mutation, Glycine cleavage system, Genetic heterogeneity, Sequence Analysis, DNA, medicine.disease, Glycine Dehydrogenase (Decarboxylating), Treatment Outcome, Female, Gene Deletion
-
13
المؤلفون: V, Ducros, J, Rousset, K, Garambois, C, Boujet, M O, Rolland, K, Valenti, L, Bouillet, A, Jaillard, A, Favier
المصدر: La Revue de medecine interne. 27(2)
مصطلحات موضوعية: Adult, Male, Venous Thrombosis, Phenotype, Hyperhomocysteinemia, Humans, Female, Homocystinuria, Age of Onset, Severity of Illness Index
-
14
المؤلفون: D. Cheillan, C. Dorche, M. Charcosset, M. Vercherat, F. Chevalier-Porst, M. O. Rolland
المصدر: Journal of inherited metabolic disease. 28(6)
مصطلحات موضوعية: medicine.medical_specialty, Heterozygote, Cystic Fibrosis, Genotype, Birth weight, Population, Ethnic group, Reference range, Ethnic origin, behavioral disciplines and activities, White People, Neonatal Screening, Africa, Northern, Genetics, medicine, Ethnicity, Humans, Mass Screening, False Positive Reactions, Genetic Testing, education, Genetics (clinical), Mass screening, education.field_of_study, Newborn screening, Models, Statistical, Obstetrics, business.industry, Incidence (epidemiology), Genetic Carrier Screening, Infant, Newborn, Surgery, Europe, Trypsinogen, business, psychological phenomena and processes
-
15
المؤلفون: Luísa Diogo, Elisa Leão, Maria Luís Cardoso, Paula Garcia, Esmeralda Martins, Esmeralda Rodrigues, M. O. Rolland, Laura Vilarinho, M.R Rodrigues
المصدر: Molecular genetics and metabolism. 82(4)
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Biology, Biochemistry, Organic aciduria, White People, Endocrinology, Genetics, medicine, Humans, Hyperammonemia, Point Mutation, Allele, Molecular Biology, Alleles, Portugal, Point mutation, Oxo-Acid-Lyases, Metabolic acidosis, Syndrome, medicine.disease, Hypotonia, 3-hydroxy-3-methylglutaryl-CoA lyase, Mutation (genetic algorithm), medicine.symptom, Acidosis
-
16
المؤلفون: M-D, Tur, E, De Maistre, P, Franck, M-O, Rolland, S, Fremont, T, Lecompte, M, Vidailhet
المصدر: La Revue de medecine interne. 25(2)
مصطلحات موضوعية: Diagnosis, Differential, Male, Time Factors, Cystathionine beta-Synthase, Humans, Thrombophilia, Homocystinuria, Middle Aged
-
17
المؤلفون: J. Duprey, G. Renom, D. Dobbelaere, P. M. Degand, M. O. Rolland, M. Fontaine
المصدر: Journal of inherited metabolic disease. 23(7)
مصطلحات موضوعية: chemistry.chemical_classification, Male, 2-Methylacetoacetyl CoA thiolase deficiency, Biology, Acetyl-CoA C-Acyltransferase, Human genetics, Enzyme, Biochemistry, chemistry, Acyltransferases, Child, Preschool, Genetics, Acetyl-CoA C-acetyltransferase, Humans, Genetics (clinical)
-
18
المؤلفون: D A, Applegarth, J R, Toone, M O, Rolland, S H, Black, D K, Yim, G, Bemis
المصدر: Prenatal diagnosis. 20(5)
مصطلحات موضوعية: Male, Hyperglycinemia, Nonketotic, Infant, Newborn, Consanguinity, Fatal Outcome, Chorionic Villi Sampling, Liver, Multienzyme Complexes, Pregnancy, Transferases, Humans, Female, Amino Acid Oxidoreductases, Carrier Proteins, False Negative Reactions
-
19
المؤلفون: P K, Nogueira, T S, Vuong, O, Bouton, A, Maillard, M, Marchand, M O, Rolland, P, Cochat, D, Bozon
المصدر: Human mutation. 15(4)
مصطلحات موضوعية: Adult, Male, Blotting, Southern, Turkey, Hyperoxaluria, Primary, Humans, Chromosome Breakage, Gene Deletion, Transaminases
-
20
المؤلفون: C, Dumontet, E C, Bauchu, K, Fabianowska, M, Lepoivre, D, Wyczechowska, F, Bodin, M O, Rolland
المصدر: Advances in experimental medicine and biology. 457
مصطلحات موضوعية: Antimetabolites, Antineoplastic, Purine-Nucleoside Phosphorylase, Adenosine Deaminase, Drug Resistance, Neoplasm, Ribonucleotide Reductases, Humans, Drug Screening Assays, Antitumor, K562 Cells, 5'-Nucleotidase, Cell Division, Drug Resistance, Multiple, Clone Cells