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La ricerca find articoli where authors phrase all words ' Stockler-Ipsiroglu, S' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 21 riferimenti
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    1. Muhl, ML; Moslinger, D; Item, CB; Stockler-Ipsiroglu, S
      Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation

      EUROPEAN JOURNAL OF HUMAN GENETICS
    2. Plochl, W; Plochl, E; Pokorny, H; Kozek-Langenecker, S; Zacherl, J; Stockler-Ipsiroglu, S; Wermuth, B; Spiss, CK; Muhlbacher, F
      Multiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency

      TRANSPLANT INTERNATIONAL
    3. Loeffen, J; Elpeleg, O; Smeitink, J; Smeets, R; Stockler-Ipsiroglu, S; Mandel, H; Sengers, R; Trijbels, F; van den Heuvel, L
      Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

      ANNALS OF NEUROLOGY
    4. Moslinger, D; Stockler-Ipsiroglu, S; Scheibenreiter, S; Tiefenthaler, M; Muhl, A; Seidl, R; Strobl, W; Plecko, B; Suormala, T; Baumgartner, ER
      Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

      EUROPEAN JOURNAL OF PEDIATRICS
    5. Ipsiroglu, O; Stockler-Ipsiroglu, S; Plecko, B; Arbeiter, K; Dunitz-Scheer, M; Heitger, A; Huber, WD; Jurgenssen, OA; Kaltenbrunner, K; Koller, D; Maurer, W; Muller, T; Paky, F; Pollak, A; Salzer, H; Skladal, D; Stromberger, C; Trop, M; Forster-Waldl, E; Weikmann, E
      On being a child and having children with the changing times

      MONATSSCHRIFT KINDERHEILKUNDE
    6. Plecko, B; Stockler-Ipsiroglu, S
      Macrocephaly as a feature of inborn errors of metabolism

      MONATSSCHRIFT KINDERHEILKUNDE
    7. Ipsiroglu, OS; Stromberger, C; Ilas, J; Hoger, H; Muhl, A; Stockler-Ipsiroglu, S
      Changes of tissue creatine concentrations upon oral supplementation of creatine-monohydrate in various animal species

      LIFE SCIENCES
    8. Bodamer, OA; Bloesch, SM; Gregg, AR; Stockler-Ipsiroglu, S; O'Brien, WE
      Analysis of guanidinoacetate and creatine by isotope dilution electrospraytandem mass spectrometry

      CLINICA CHIMICA ACTA
    9. Item, CB; Stockler-Ipsiroglu, S; Stromberger, C; Muhl, A; Alessandri, MG; Bianchi, MC; Tosetti, M; Fornai, F; Cioni, G
      Arginine : glycine amidinotransferase deficiency: The third inborn error of creatine metabolism in humans

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. Moslinger, D; Scheibenreiter, S; Spoula, E; Stockler-Ipsiroglu, S
      Dietary treatment in maternal phenylketonuria

      ZEITSCHRIFT FUR GEBURTSHILFE UND NEONATOLOGIE
    11. Plecko, B; Stockler-Ipsiroglu, S; Paschke, E; Erwa, W; Struys, EA; Jakobs, C
      Pipecolic acid elevation in plasma and cerebrospinal fluid of two patientswith pyridoxine-dependent epilepsy

      ANNALS OF NEUROLOGY
    12. van der Knaap, MS; Verhoeven, NM; Maaswinkel-Mooij, P; Pouwels, PJW; Onkenhout, W; Peeters, EAJ; Stockler-Ipsiroglu, S; Jakobs, C
      Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect

      ANNALS OF NEUROLOGY
    13. Janecke, AR; Lindner, M; Erdel, M; Mayatepek, E; Moslinger, D; Podskarbi, T; Fresser, F; Stockler-Ipsiroglu, S; Hoffmann, GF; Utermann, G
      Mutation analysis in glycogen storage disease type 1 non-a

      HUMAN GENETICS
    14. Barmaki Pour, R; Stockler-Ipsiroglu, S; Hunneman, DH; Gahr, M; Korenke, GC; Pabst, W; Hanefeld, F; Peters, A
      Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22 : 1)-rich triglycerides

      JOURNAL OF INHERITED METABOLIC DISEASE
    15. Mayerhofer, K; Hefler, L; Zeisler, H; Tempfer, C; Bodner, K; Stockler-Ipsiroglu, S; Muhl, A; Kaider, A; Schatten, C; Leodolter, S; Husslein, P; Kainz, C
      Serum homocyst(e)ine levels in women with preeclampsia

      WIENER KLINISCHE WOCHENSCHRIFT
    16. Crone, J; Huber, WD; Moslinger, D; Felberbauer, F; Utermann, K; Gratzl, R; Stockler-Ipsiroglu, S
      Tyrosinemia type I - clinical and biochemical symptoms of three infants

      MONATSSCHRIFT KINDERHEILKUNDE
    17. Seidl, R; Stockler-Ipsiroglu, S; Rolinski, B; Kohlhauser, C; Herkner, KR; Lubec, B; Lubec, G
      Energy metabolism in graded perinatal asphyxia of the rat

      LIFE SCIENCES
    18. Ilas, J; Muhl, A; Stockler-Ipsiroglu, S
      Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism

      CLINICA CHIMICA ACTA
    19. Schuelke, M; Smeitink, J; Mariman, E; Loeffen, J; Plecko, B; Trijbels, F; Stockler-Ipsiroglu, S; van den Heuvel, L
      Mutant NDUFV1subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

      NATURE GENETICS
    20. Ipsiroglu, OS; Eichler, F; Stockler-Ipsiroglu, S; Trattnig, S
      Cerebral blood flow velocities in an infant with moyamoya disease

      PEDIATRIC NEUROLOGY
    21. Tiefenthaler, M; Seidl, R; Scheibenreiter, S; Wandl-Vergesslich, K; Stockler-Ipsiroglu, S
      An adult phenylketonuria patient before and one year after reinstitution of dietary therapy

      WIENER KLINISCHE WOCHENSCHRIFT


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/10/20 alle ore 19:00:42