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La ricerca find articoli where authors phrase all words ' de Baulny, HO' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 12 riferimenti
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    1. Benoist, JF; Acquaviva, C; Callebaut, I; Guffon, N; de Baulny, HO; Mornon, JP; Porquet, D; Elion, J
      Molecular and structural analysis of two novel mutations in a patient withMut(-) methylmalanyl-CoA deficiency

      MOLECULAR GENETICS AND METABOLISM
    2. de Lonlay, P; Valnot, I; Barrientos, A; Gorbatyuk, M; Tzagoloff, A; Taanman, JW; Benayoun, E; Chretien, D; Kadhom, N; Lombes, A; de Baulny, HO; Niaudet, P; Munnich, M; Rustin, P; Rotig, A
      A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

      NATURE GENETICS
    3. Acquaviva, C; Benoist, JF; Callebaut, I; Guffon, N; de Baulny, HO; Touati, G; Aydin, A; Porquet, D; Elion, J
      N219Y, a new frequent mutation among mut degrees forms of methylmalonic acidemia in Caucasian patients

      EUROPEAN JOURNAL OF HUMAN GENETICS
    4. Legros, F; Chatzoglou, E; Frachon, P; de Baulny, HO; Laforet, P; Jardel, C; Godinot, C; Lombes, A
      Functional characterization of novel mutations in the human cytochrome b gene

      EUROPEAN JOURNAL OF HUMAN GENETICS
    5. Abadie, V; Berthelot, J; Feillet, F; Maurin, N; Mercier, A; de Baulny, HO; de Parscau, L
      Neonatal screening and long-term follow-up of phenylketonuria: the French database

      EARLY HUMAN DEVELOPMENT
    6. Barthelemy, C; de Baulny, HO; Diaz, J; Cheval, MA; Frachon, P; Romero, N; Goutieres, F; Fardeau, M; Lombes, A
      Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation

      ANNALS OF NEUROLOGY
    7. Duval, M; de Baulny, HO; Vilmer, E
      Treatment of hemophagocytic lymphohistiocytosis with cyclosporin A and steroids in a boy with lysinuric protein intolerance - Reply

      JOURNAL OF PEDIATRICS
    8. Rizk, C; Valdes, L; de Baulny, HO; Saudubray, JM; Olivier, C
      Severe lactic acidosis reveals an allergy to cow milk.

      ARCHIVES DE PEDIATRIE
    9. de Baulny, HO; Husson, I; Castelnau, P; Saudubray, JM
      Diagnosing states of ketosis in pediatrics

      ARCHIVES DE PEDIATRIE
    10. Rybojad, M; Moraillon, I; De Baulny, HO; Prigent, F; Morel, P
      Extensive mongolian spot revealing Hurler's syndrome.

      ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
    11. Touma, E; Suormala, T; Baumgartner, ER; Gerbaka, B; de Baulny, HO; Loiselet, J
      Holocarboxylase synthetase deficiency: Report of a case with onset in lateinfancy

      JOURNAL OF INHERITED METABOLIC DISEASE
    12. Duval, M; Fenneteau, O; Doireau, V; Faye, A; Emilie, D; Yolnda, P; Drapier, JC; Schlegel, N; Sterkers, G; de Baulny, HO; Vilmer, E
      Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance

      JOURNAL OF PEDIATRICS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/21 alle ore 06:07:17