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    1. Burlina, AB; Ogier, H; Korall, H; Trefz, FK
      Long-term treatment with sodium phenylbutyrate in ornithine transcarbamylase-deficient patients

      MOLECULAR GENETICS AND METABOLISM
    2. Burlina, AP; Baracchini, C; Carollo, C; Burlina, AB
      Propionic acidaemia with basal ganglia stroke: Treatment of acute extrapyramidal symptoms with L-DOPA

      JOURNAL OF INHERITED METABOLIC DISEASE
    3. Invernizzi, F; Burlina, AB; Donadio, A; Giordano, G; Taroni, F; Garavaglia, B
      Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

      JOURNAL OF INHERITED METABOLIC DISEASE
    4. Bonafe, L; Blau, N; Burlina, AP; Romstad, A; Guttler, F; Burlina, AB
      Treatable neurotransmitter deficiency in mild phenylketonuria

      NEUROLOGY
    5. Salvi, S; Santorelli, FM; Bertini, E; Boldrini, R; Meli, C; Donati, A; Burlina, AB; Rizzo, C; Di Capua, M; Fariello, G; Dionisi-Vici, C
      Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

      NEUROLOGY
    6. Bonafe, L; Troxler, H; Kuster, T; Heizmann, CW; Chamoles, NA; Burlina, AB; Blau, N
      Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias

      MOLECULAR GENETICS AND METABOLISM
    7. Cesari, M; Burlina, AB; Narkiewicz, K; Sartori, MT; Sacchetto, A; Rossi, GP
      Are fasting plasma homocyst(e)ine levels heritable? A study of normotensive twins

      JOURNAL OF INVESTIGATIVE MEDICINE
    8. Riudor, E; Arranz, JA; Rodes, M; Rubio, V; Sentis, M; Burlina, AB
      Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants

      JOURNAL OF INHERITED METABOLIC DISEASE
    9. Jones, PM; Burlina, AB; Bennett, MJ
      Quantitative measurement of total and free 3-hydroxy fatty acids in serum or plasma samples: short-chain 3-hydroxy fatty acids are not esterified

      JOURNAL OF INHERITED METABOLIC DISEASE
    10. Burlina, AB; Bonafe, L; Ferrari, V; Suppiej, A; Zacchello, F; Burlina, AP
      Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment

      JOURNAL OF INHERITED METABOLIC DISEASE
    11. Favaro, A; Caregaro, L; Burlina, AB; Santonastaso, P
      Tryptophan levels, excessive exercise, and nutritional status in anorexia nervosa

      PSYCHOSOMATIC MEDICINE
    12. Jones, PM; Quinn, R; Fennessey, PV; Tjoa, S; Goodman, SI; Fiore, S; Burlina, AB; Rinaldo, P; Boriack, RL; Bennett, MJ
      Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation

      CLINICAL CHEMISTRY
    13. Burlina, AP; Ferrari, V; Divry, P; Gradowska, W; Jakobs, C; Bennett, MJ; Sewell, AC; Dionisi-Vici, C; Burlina, AB
      N-acetylaspartylglutamate in Canavan disease: an adverse effector?

      EUROPEAN JOURNAL OF PEDIATRICS
    14. Otto, LR; Boriack, RL; Marsh, DJ; Kum, JB; Eng, C; Burlina, AB; Bennett, MJ
      Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (ERRS)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    15. Burlina, AB; Bonafe, L; Zacchello, F
      Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism

      SEMINARS IN PERINATOLOGY
    16. Goi, G; Bairati, C; Segalini, G; Burlina, AB; Massaccesi, L; Lovagnini, A; Lombardo, A
      Alterations in the activity of several glycohydrolases in red blood cell membrane from type 2 diabetes mellitus patients

      METABOLISM-CLINICAL AND EXPERIMENTAL
    17. Vergani, L; Barile, M; Angelini, C; Burlina, AB; Nijtmans, L; Freda, MP; Brizio, C; Zerbetto, E; Dabbeni-Sala, F
      Riboflavin therapy - Biochemical heterogeneity in two adult lipid storage myopathies

      BRAIN
    18. Burlina, AB; Gibson, KM; Ruitenbeek, W; Bonafe, L; Bennett, MJ
      Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism

      JOURNAL OF INHERITED METABOLIC DISEASE
    19. STANLEY CA; LIEU YK; HSU BYL; BURLINA AB; GREENBERG CR; HOPWOOD NJ; PERLMAN K; RICH BH; ZAMMARCHI E; PONCZ M
      HYPERINSULINISM AND HYPERAMMONEMIA IN INFANTS WITH REGULATORY MUTATIONS OF THE GLUTAMATE-DEHYDROGENASE GENE

      The New England journal of medicine
    20. PAGANI F; PARIYARATH R; GARCIA R; STUANI C; BURLINA AB; RUOTOLO G; RABUSIN M; BARALLE FE
      NEW LYSOSOMAL ACID LIPASE GENE MUTANTS EXPLAIN THE PHENOTYPE OF WOLMAN-DISEASE AND CHOLESTERYL ESTER STORAGE DISEASE

      Journal of lipid research
    21. BONAFE L; BURLINA AB; SANSONI S; GRAZIAN L; ZORZI C; ROBINSON BH; ZACCHELLO F
      AN ATYPICAL FORM OF PYRUVATE-CARBOXYLASE DEFICIENCY

      Rivista italiana di pediatria
    22. ROMANO C; BURRONI M; CACCIARI E; CERONE R; CORBETTA C; LILLIU F; BALSAMO A; CARDILLO A; CARNEVALE F; CARUSO U; CIATTI R; CIONI M; DOTTI L; IMPELLIZZERI A; LELLI A; LEUZZI V; PAGLIARDINI S; PIAZZI S; PRINCIPI R; SALARDI S; SCHIAFFINO MC; ALOISI R; ALTAMURA A; BIASUCCI G; BURLINA AB; COTUGNO G; FABIANO F; GHIRRI P; GIOVANNINI M; MELI C; MOSTARDINI R; MUSARO MA; PAOLILLO L; PERUZZI L; PIGNERO A; PULITI MT; RIVA E; SORTINO C; SPADA M; TERRANOVA D; ZAMMARCHI E
      DIAGNOSIS, CLASSIFICATION, BASIS OF TREAT MENT OF HYPERPHENYLALANINEMIAS

      Rivista italiana di pediatria
    23. BURLINA AP; FERRARI V; FACCI L; SKAPER SD; BURLINA AB
      MAST-CELLS CONTAIN LARGE QUANTITIES OF SECRETAGOGUE-SENSITIVE N-ACETYLASPARTATE

      Journal of neurochemistry
    24. DRIGO P; PIOVAN S; BATTISTELLA PA; DELLAPUPPA A; BURLINA AB
      MACROCEPHALY, SUBARACHNOID FLUID COLLECTION, AND GLUTARIC ACIDURIA TYPE-I

      Journal of child neurology
    25. ROSCO A; BARDELLI P; BURLINA AB; CASTIGLIONI G; CORBETTA C; MELOTTI D; MENNI F; PAROLA L; PARINI R
      DEFICIENCY OF FRUCTOSE-1,6-BIPHOSPHATASE - DIAGNOSTIC DIFFICULTIES INA LATE-ONSET CASE

      Rivista italiana di pediatria
    26. PIVA E; DETONI S; BOVO C; BORDUGO A; BURLINA AB; PLEBANI M
      NADPH OXIDASE ACTIVITY AND CHEMOTAXIS BY NEUTROPHILS IN 2 PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE IB TREATED WITH RECOMBINANT HUMAN GRANULOCYTE-MONOCYTE COLONY-STIMULATING FACTOR

      Haematologica
    27. HOFFMANN GF; ATHANASSOPOULOS S; BURLINA AB; DURAN M; DEKLERK JBC; LEHNERT W; LEONARD JV; MONAVARI AA; MULLER E; MUNTAU AC; NAUGHTEN ER; PLECKOSTARTING B; SUPERTIFURGA A; ZSCHOCKE J; CHRISTENSEN E
      CLINICAL COURSE, EARLY DIAGNOSIS, TREATMENT, AND PREVENTION OF DISEASE IN GLUTARYL-COA DEHYDROGENASE-DEFICIENCY

      Neuropediatrics
    28. CARUSO U; ADAMI A; BERTINI E; BURLINA AB; CARNEVALE F; CERONE R; DIONISIVICI C; GIORDANO G; LEUZZI E; PARENTI G; SAVASTA S; UZIEL G; ZEVIANI M
      RESPIRATORY-CHAIN AND PYRUVATE METABOLISM DEFECTS - ITALIAN COLLABORATIVE SURVEY ON 72 PATIENTS

      Journal of inherited metabolic disease
    29. BURLINA AB; DERMIKOL M; MANTAU A; PIOVAN S; GRAZIAN L; ZACCHELLO F; SHIN Y
      INCREASED PLASMA BIOTINIDASE ACTIVITY IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE IA - EFFECT OF BIOTIN SUPPLEMENTATION

      Journal of inherited metabolic disease
    30. BURLINA AB; PIOVAN S; GRAZIAN L; ZACCHELLO F
      MULTIPLE-SCLEROSIS IN GLYCOGEN-STORAGE-DISEASE TYPE-III (GSD-III)

      Pediatric research
    31. BENNETT MJ; WEINBERGER MJ; KOBORI JA; RINALDO P; BURLINA AB
      MITOCHONDRIAL SHORT-CHAIN L-3-HYDROXYACYL-COENZYME A DEHYDROGENASE-DEFICIENCY - A NEW DEFECT OF FATTY-ACID OXIDATION

      Pediatric research
    32. DIONISIVICI C; GARAVAGLIA B; BURLINA AB; BERTINI E; SAPONARA I; SABETTA G; TARONI F
      HYPOPARATHYROIDISM IN MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY

      The Journal of pediatrics
    33. BARTULI A; PICCA S; VICI CD; GRECO M; DELLOSTROLOGO L; BURLINA AB; SABETTA G; RIZZONI G
      ROLE OF DIALYSIS IN THE TREATMENT OF CHIL DREN WITH ACUTE DECOMPENSATION IN CONGENITAL METABOLIC DISORDERS

      Rivista italiana di pediatria
    34. BURLINA AB; BENNETT MJ; GREGERSEN N; BARBA BD; ZACCHELLO F
      MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY PRESENTING IN THE NEONATAL-PERIOD - THE FIRST ITALIAN CASE

      European journal of pediatrics
    35. BURLINA AB; DIONISIVICI C; PIOVAN S; SAPONARA I; BARTULI A; SABETTA G; ZACCHELLO F
      ACUTE-PANCREATITIS IN PROPIONIC ACIDEMIA

      Journal of inherited metabolic disease
    36. DIONISIVICI C; SAPONARA I; BURLINA AB; GARAVAGLIA B; DIDONATO S; PICCA S; BERTINI E; SABETTA G
      MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY AND HYPOPARATHYROIDISM

      Pediatric research
    37. BURLINA AB; PIOVAN S; GRAZIAN L; ZACCHELLO F; WEINBERGER M; BENNETT MJ
      VARIABLE CLINICAL PRESENTATIONS OF GLUTARIC ACIDURIA TYPE-II

      Pediatric research
    38. BLAU N; ICHINOSE H; NAGATSU T; HEIZMANN CW; ZACCHELLO F; BURLINA AB
      A MISSENSE MUTATION IN A PATIENT WITH GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE-I DEFICIENCY MISSED IN THE NEWBORN SCREENING-PROGRAM

      The Journal of pediatrics
    39. PONZONE A; FERRARIS S; SPADA M; BLAU N; PIOVAN S; BURLINA AB
      COMBINED PHENYLALANINE-TETRAHYDROBIOPTERIN LOADING TEST IN GTP CYCLOHYDROLASE-1 DEFICIENCY

      European journal of pediatrics
    40. BURLINA AP; CORAZZA A; FERRARI V; ERHARD P; KUNNECKE B; SEELIG J; BURLINA AB
      DETECTION OF INCREASED URINARY N-ACETYLASPARTYLGLUTAMATE IN CANAVAN DISEASE

      European journal of pediatrics
    41. PARRELLA T; SURREY S; IOLASCON A; SARTORE M; HEIDENREICH R; DIAMOND G; PONZONE A; GUARDAMAGNA O; BURLINA AB; CERONE R; PARINI R; DIONISIVICI C; RAPPAPORT E; FORTINA P
      MAPLE-SYRUP-URINE-DISEASE (MSUD) - SCREENING FOR KNOWN MUTATIONS IN ITALIAN PATIENTS

      Journal of inherited metabolic disease
    42. BENNETT MJ; WEINBERGER MJ; SHERWOOD WG; BURLINA AB
      SECONDARY 3-HYDROXYDICARBOXYLIC ACIDURIA MIMICKING LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY

      Journal of inherited metabolic disease
    43. SALAMINO F; DILISA F; BURLINA AB; MENABO R; BARBATO R; DETULLIO R; SILIPRANDI N
      INVOLVEMENT OF ERYTHROCYTE CALPAIN IN GLYCINE-TREATED AND CARNITINE-TREATED ISOVALERIC ACIDEMIA

      Pediatric research
    44. DIONISIVICI C; BERTINI E; SABETTA G; SAPONARA I; SERVIDEI S; BENNETT MJ; BURLINA AB
      A NOVEL MITOCHONDRIAL ENCEPHALOPATHY OCULOPATHY CARDIOPATHY MYOPATHY WITH ABNORMAL ORGANIC ACIDURIA AND COMBINED COMPLEX-1 AND COMPLEX-IV RESPIRATORY-CHAIN ENZYME DEFICIENCY

      Pediatric research
    45. BURLINA AB; FERRARI V; DIONISIVICI C; ZACCHELLO F; BURLINA AP
      N-ACETYLASPARTYLGLUTAMATE IN URINE AND CSF IN CANAVAN DISEASE

      Pediatric research
    46. BURLINA AB; BORDUGO A; PIVA E; DARIOL R; ZACCHELLO F
      LONG-TERM TREATMENT OF GLYCOGEN-STORAGE-DISEASE TYPE 1B (GSD 1B) WITHGRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR (GM CSF)/

      Pediatric research
    47. BURLINA AB; RINALDO P
      ENCEPHALOPATHY, PETECHIAE AND ACROCYANOSIS WITH ETHYLMALONIC ACIDURIAASSOCIATED WITH MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY - REPLY

      The Journal of pediatrics
    48. BURLINA AB; DIONISIVICI C; BENNETT MJ; GIBSON KM; SERVIDEI S; BERTINI E; HALE DE; SCHMIDTSOMMERFELD E; SABETTA G; ZACCHELLO F; RINALDO P
      A NEW SYNDROME WITH ETHYLMALONIC ACIDURIA AND NORMAL FATTY-ACID OXIDATION IN FIBROBLASTS

      The Journal of pediatrics
    49. BURLINA AP; SKAPER SD; MAZZA MR; FERRARI V; LEON A; BURLINA AB
      N-ACETYLASPARTYLGLUTAMATE SELECTIVELY INHIBITS NEURONAL RESPONSES TO N-METHYL-D-ASPARTIC ACID IN-VITRO

      Journal of neurochemistry
    50. DRIGO P; BURLINA AB; BATTISTELLA PA
      SUBDURAL-HEMATOMA AND GLUTARIC ACIDURIA TYPE-1

      Brain & development
    51. BURLINA AB; MILANESI O; BIBAN P; BORDUGO A; GARAVAGLIA B; ZACCHELLO F; DIMAURO S
      BENEFICIAL EFFECT OF SODIUM DICHLOROACETATE IN MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY

      European journal of pediatrics
    52. BENNETT MJ; SHERWOOD WG; GIBSON KM; BURLINA AB
      SECONDARY INHIBITION OF MULTIPLE NAD-REQUIRING DEHYDROGENASES IN RESPIRATORY-CHAIN COMPLEX-I DEFICIENCY - POSSIBLE METABOLIC MARKERS FOR THE PRIMARY DEFECT

      Journal of inherited metabolic disease


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/10/20 alle ore 03:20:23