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    1. Funghini, S; Pasquini, E; Cappellini, M; Donati, MA; Morrone, A; Fonda, C; Zammarchi, E
      3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene

      MOLECULAR GENETICS AND METABOLISM
    2. Leuzzi, R; Fulceri, R; Marcolongo, P; Banhegyi, G; Zammarchi, E; Stafford, K; Burchell, A; Benedetti, A
      Glucose 6-phosphate transport in fibroblast microsomes from glycogen storage disease type 1b patients: evidence for multiple glucose 6-phosphate transport systems

      BIOCHEMICAL JOURNAL
    3. Rossi, A; Cerone, R; Biancheri, R; Gatti, R; Schiaffino, MC; Fonda, C; Zammarchi, E; Tortori-Donati, P
      Early-onset combined methylmalonic aciduria and homocystinuria: Neuroradiologic findings

      AMERICAN JOURNAL OF NEURORADIOLOGY
    4. Pela, I; Donati, MA; Zammarchi, E
      Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuria

      JOURNAL OF INHERITED METABOLIC DISEASE
    5. Morrone, A; Bardelli, T; Donati, MA; Giorgi, M; Di Rocco, M; Gatti, R; Parini, R; Ricci, R; Taddeucci, G; D'Azzo, A; Zammarchi, E
      beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement

      HUMAN MUTATION
    6. Bonten, EJ; Arts, WF; Beck, M; Covanis, A; Donati, MA; Parini, R; Zammarchi, E; d'Azzo, A
      Novel mutations in lysosomal neuraminidase identify functional domains anddetermine clinical severity in sialidosis

      HUMAN MOLECULAR GENETICS
    7. Ciani, F; Poggi, GM; Pasquin, E; Donati, MA; Zammarchi, E
      Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency

      CLINICAL NUTRITION
    8. Poggi, GM; Lamantea, E; Ciani, F; Donati, MA; Carrara, F; Bartalena, L; Garavaglia, B; Zammarchi, E
      Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion

      JOURNAL OF INHERITED METABOLIC DISEASE
    9. de Sanctis, L; Alliaudi, C; Spada, M; Farrugia, R; Cerone, R; Biasucci, G; Meli, C; Zammarchi, E; Coskun, T; Blau, N; Ponzone, A; Dianzani, I
      Genotype-phenotype correlation in dihydropteridine reductase deficiency

      JOURNAL OF INHERITED METABOLIC DISEASE
    10. Ciani, F; Donati, MA; Tulli, G; Poggi, GM; Pasquini, E; Rosenblatt, DS; Zammarchi, E
      Lethal late onset cblB methylmalonic aciduria

      CRITICAL CARE MEDICINE
    11. Porfirio, B; Chiarelli, I; Graziano, C; Mannoni, A; Morrone, A; Zammarchi, E; De Bernabe, DBV; De Cordoba, SR
      Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene

      JOURNAL OF MEDICAL GENETICS
    12. De Leo, R; Miccadei, S; Zammarchi, E; Civitareale, D
      Role for p300 in Pax 8 induction of thyroperoxidase gene expression

      JOURNAL OF BIOLOGICAL CHEMISTRY
    13. De Leo, V; la Marca, A; Morgante, G; Ciani, F; Zammarchi, E; Setacci, C
      Low-dose folic acid supplementation reduces plasma levels of the cardiovascular risk factor homocysteine in postmenopausal women

      AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
    14. Bettinelli, A; Rusconi, R; Ciarmatori, S; Righini, V; Zammarchi, E; Donati, MA; Isimbaldi, C; Bevilacqua, M; Cesareo, L; Tedeschi, S; Garavaglia, R; Casari, G
      Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular-pituitary syndrome?

      PEDIATRIC RESEARCH
    15. Micheli, V; Sestini, S; Rocchigiani, M; Jacomelli, G; Manzoni, F; Peruzzi, L; Gathof, BS; Zammarchi, E; Pompucci, G
      Hypoxanthine-guanine phosphoribosyltransferase deficiency and erythrocyte synthesis of pyridine coenzymes

      LIFE SCIENCES
    16. BOSCO P; CALI F; MELI C; MOLLICA F; ZAMMARCHI E; CERONE R; VANNI C; PALILLO L; GRECO D; ROMANO V
      8 NEW MUTATIONS OF THE PHENYLALANINE-HYDROXYLASE GENE IN ITALIAN PATIENTS WITH HYPERPHENYLALANINEMIA

      Human mutation
    17. Balsamo, A; Baserga, M; Burroni, M; Cacciari, E; Cardillo, A; Cassio, A; Cerone, R; Ciatti, R; Cioni, M; Cotugno, G; Forgione, F; Impellizzeri, A; Lelli, A; Lilliu, F; Meli, C; Pagliardini, S; Palillo, L; Parlato, G; Piazzi, S; Pugliese, G; Romano, C; Salardi, S; Torelli, G; Zammarchi, E
      Screening and diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

      RIVISTA ITALIANA DI PEDIATRIA-ITALIAN JOURNAL OF PEDIATRICS
    18. 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
    19. MARCOLONGO P; BARONE V; PRIORI G; PIROLA B; GIGLIO S; BIASUCCI G; ZAMMARCHI E; PARENTI G; BURCHELL A; BENEDETTI A; SORRENTINO V
      STRUCTURE AND MUTATION ANALYSIS OF THE GLYCOGEN-STORAGE-DISEASE TYPE IB GENE

      FEBS letters
    20. ZHOU XY; VANDERSPOEL A; ROTTIER R; HALE G; WILLEMSEN R; BERRY GT; STRISCIUGLIO P; MORRONE A; ZAMMARCHI E; ANDRIA G; DAZZO A
      MOLECULAR AND BIOCHEMICAL-ANALYSIS OF PROTECTIVE PROTEIN CATHEPSIN A MUTATIONS - CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS (VOL 5, PG 1977, 1996)/

      Human molecular genetics
    21. ZAMMARCHI E; DONATI MA; PASQUINI E; CIANI F
      ELECTROMYOGRAPHIC ALTERATIONS IN HYPERPHENYLALANINEMIA DUE TO DIHYDROPTERIDINE REDUCTASE DEFICIENCY

      Journal of child neurology
    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. NOVEMBRE E; CIANFERONI A; ZAMMARCHI E; BERNARDINI R; PUCCI N; LOMBARDI E; VIERUCCI A
      ACUTE ASTHMA THERAPY IN CHILDREN ADMITTED TO A PEDIATRIC HOSPITAL IN A 6-YEAR PERIOD (1989-1995)

      Rivista italiana di pediatria
    24. MORRONE A; ZAMMARCHI E; SCACHERI PC; DONATI MA; HOOP RC; SERVIDEI S; GALLUZZI G; HOFFMAN EP
      ASYMPTOMATIC DYSTROPHINOPATHY

      American journal of medical genetics
    25. ZAMMARCHI E; CIANI F; PASQUINI E; BONOCORE G; SHIH VE; DONATI MA
      NEONATAL ONSET OF HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME WITH FAVORABLE OUTCOME

      The Journal of pediatrics
    26. MORRONE A; PEGORARO E; ANGELINI C; ZAMMARCHI E; MARCONI G; HOFFMAN EP
      RNA-METABOLISM IN MYOTONIC-DYSTROPHY - PATIENT MUSCLE SHOWS DECREASEDINSULIN-RECEPTOR RNA AND PROTEIN CONSISTENT WITH ABNORMAL INSULIN-RESISTANCE

      The Journal of clinical investigation
    27. GIORGI M; MORRONE A; DONATI MA; BARDELLI T; CIANI F; BIASUCCI G; GIOVANNINI M; ZAMMARCHI E
      ANALYSIS OF OTC MESSENGER-RNA FROM LYMPHOCYTES LEADS TO THE IDENTIFICATION OF NEW MUTATIONS IN ITALIAN OTCD PATIENTS

      American journal of human genetics
    28. MORRONE A; BARDELLI T; DONATI MA; GIORGI M; DIROCCO R; GATTI R; TADDEUCCI G; RICCI R; DAZZO A; ZAMMARCHI E
      IDENTIFICATION OF NEW MUTATIONS IN 6 ITALIAN PATIENTS AFFECTED BY A VARIANT FORM OF INFANTILE GM1-GANGLIOSIDOSIS WITH SEVERE CARDIOMYOPATHY

      American journal of human genetics
    29. DADAMO P; FASSONE L; GEDEON A; JANSSEN EAM; BIONE S; BOLHUIS PA; BARTH PG; WILSON M; HAAN E; ORSTAVIK KH; PATTON MA; GREEN AJ; ZAMMARCHI E; DONATI MA; TONIOLO D
      THE X-LINKED GENE G4.5 IS RESPONSIBLE FOR DIFFERENT INFANTILE DILATEDCARDIOMYOPATHIES

      American journal of human genetics
    30. FILIPPI L; DONATI MA; NOVEMBRE E; ZAMMARCHI E
      REDOX STATUS IN THE DIAGNOSIS OF MITOCHON DRIAL DISEASES

      Rivista italiana di pediatria
    31. ZAMMARCHI E; DONATI MA; FILIPPI L; RESTI M
      CRYPTOGENIC HEPATITIS MASKING THE DIAGNOSIS OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY

      Journal of pediatric gastroenterology and nutrition
    32. ZAMMARCHI E; FILIPPI L; FONDA C; BENEDETTI PA; PISTONE D; DONATI MA
      DIFFERENT NEUROLOGIC OUTCOMES IN 2 PATIENTS WITH NEONATAL HYPERINSULINEMIC HYPOGLYCEMIA

      Child's nervous system
    33. ZAMMARCHI E; DONATI MA; MORRONE A; DONZELLI GP; ZHOU XY; DAZZO A
      EARLY-INFANTILE GALACTOSIALIDOSIS - CLINICAL, BIOCHEMICAL, AND MOLECULAR OBSERVATIONS IN A NEW PATIENT

      American journal of medical genetics
    34. ZAMMARCHI E; FILIPPI L; NOVEMBRE E; DONATI MA
      BIOCHEMICAL EVALUATION OF A PATIENT WITH A FAMILIAL FORM OF LEUCINE-SENSITIVE HYPOGLYCEMIA AND CONCOMITANT HYPERAMMONEMIA

      Metabolism, clinical and experimental
    35. ZAMMARCHI E; DONATI MA; CIANI F; RUBETTI P; PASQUINI E
      FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY MISDIAGNOSED AS REYE-SYNDROME (VOL 34, PG 561, 1995)

      Clinical pediatrics
    36. RESTI M; AZZARI C; LEGA L; ROSSI ME; ZAMMARCHI E; NOVEMBRE E; VIERUCCI A
      MOTHER-TO-INFANT TRANSMISSION OF HEPATITIS-C VIRUS

      Acta paediatrica
    37. ZAMMARCHI E; DONATI MA; FILIPPI L; MORRONE A; REPETTO T; MASCOLO G; COMELLINI L
      HYPERTRANSAMINASEMIA AND ORNITHINE TRANSC ARBAMYLASE DEFICIENCY

      Rivista italiana di pediatria
    38. DEMARTINO M; ZAMMARCHI E; FILIPPI L; DONATI MA; MANNELLI F; GALLI L; VIERUCCI A
      REDOX POTENTIAL STATUS IN CHILDREN WITH PERINATAL HIV-1 INFECTION TREATED WITH ZIDOVUDINE

      AIDS
    39. ZAMMARCHI E; DONATI MA; CIANI F
      TRANSIENT NEONATAL NONKETOTIC HYPERGLYCINEMIA - A 13-YEAR FOLLOW-UP

      Neuropediatrics
    40. FIDZIANSKA A; MORRONE A; PEGORARO E; RYNIEWICZ B; ILNICKA A; ZAMMARCHI E; HOFFMAN EP
      AN X-ATOSOME TRANSLOCATION STABILIZES TRUNCATED DYSTROPHIN - IMPLICATIONS FOR LACK OF TRUNCATED DYSTROPHINS IN DUCHENNE MUSCULAR-DYSTROPHY

      Neuropediatrics
    41. NOVEMBRE E; FRONGIA G; LOMBARDI E; RESTI M; ZAMMARCHI E; VIERUCCI A
      THE PREVENTIVE EFFECT AND DURATION OF ACTION OF 2 DOSES OF INHALED FUROSEMIDE ON EXERCISE-INDUCED ASTHMA IN CHILDREN

      Journal of allergy and clinical immunology
    42. ZAMMARCHI E; DONATI MA; CIANI F; RUBETTI P; PASQUINI E
      FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY MISDIAGNOSED AS REYE SYNDROME

      Clinical pediatrics
    43. MORRONE A; ZAMMARCHI E; HOOP RC; DONATI MA; SERVIDEI S; GALLUZZI G; HOFFMAN EP
      ASYMPTOMATIC DYSTROPHINOPATHY - DETECTION BY ELEVATED AST LEVELS, ANDIDENTIFICATION OR AN INTRAGENIC DOUBLE RECOMBINATION EVENT

      American journal of human genetics
    44. WANG JZ; MORRONE A; PEGORARO E; ANGELINI C; ZAMMARCHI E; MARCONI G; HOFFMAN EP
      MYOTONIC-DYSTROPHY - IS THIS AN RNA EXPANSION DISORDER

      American journal of human genetics
    45. MORRONE A; MORREAU H; ZHOU XY; ZAMMARCHI E; KLEIJER WJ; GALJAARD H; DAZZO A
      INSERTION OF A T NEXT TO THE DONOR SPLICE-SITE OF INTRON-1 CAUSES ABERRANTLY SPLICED MESSENGER-RNA IN A CASE OF INFANTILE G(M1)-GANGLIOSIDOSIS

      Human mutation
    46. ZAMMARCHI E; SAVELLI A; DONATI MA; PASQUINI E
      SELF-MUTILATION IN A PATIENT WITH MUCOLIPIDOSIS-III

      Pediatric neurology
    47. VIERUCCI A; NOVEMBRE E; ROSSI ME; RESTI M; ZAMMARCHI E
      DIET IN PREVENTION AND THERAPY OF ATOPIC-DERMATITIS

      Rivista italiana di pediatria
    48. FILIPPI L; ZAMMARCHI E; DONATI MA; PASQUINI E
      THE PERCUTANEOUS TRANSHEPATIC PANCREATIC CATHETERIZATION IN THE DIAGNOSIS OF HYPERINSULINISM IN A PATIENT

      Rivista italiana di pediatria
    49. ZAMMARCHI E; DONATI MA; TUCCI F; FONDA C; FANELLI F; PAZZAGLIA R
      ACUTE ONSET OF X-LINKED ADRENOLEUKODYSTROPHY MIMICKING ENCEPHALITIS

      Brain & development
    50. ZAMMARCHI E; DONATI MA; MASI S; SARTI A; CASTELLI S
      FAMILIAL INFANTILE MYASTHENIA - A NEUROMUSCULAR CAUSE OF RESPIRATORY-FAILURE

      Child's nervous system
    51. ROMANO V; DIANZANI I; PONZONE A; ZAMMARCHI E; EISENSMITH R; CERATTO N; BOSCO P; INDELICATO A
      PRENATAL-DIAGNOSIS BY MINISATELLITE ANALYSIS IN ITALIAN FAMILIES WITHPHENYLKETONURIA

      Prenatal diagnosis
    52. ZAMMARCHI E; DONATI MA; CIANI F; PASQUINI E; PELA I; FIORINI P
      FAILURE OF EARLY DEXTROMETHORPHAN AND SODIUM BENZOATE THERAPY IN AN INFANT WITH NONKETOTIC HYPERGLYCINEMIA

      Neuropediatrics
    53. DEMARTINO M; GALLI L; AZZARI C; ZAMMARCHI E; VIERUCCI A
      EFFECT OF DIFFERENT INTRAVENOUS IMMUNOGLOBULIN REGIMENS ON HEMORRHAGES, PLATELET NUMBERS AND VOLUME IN A CHILD WITH WISKOTT-ALDRICH SYNDROME

      Vox sanguinis
    54. PICCO P; LEVERATTO L; CAMA A; VIGLIAROLO MA; LEVATO GL; GATTORNO M; ZAMMARCHI E; DONATI MA
      IMMOTILE CILIA SYNDROME-ASSOCIATED WITH HYDROCEPHALUS AND PRECOCIOUS PUBERTY - A CASE-REPORT

      European journal of pediatric surgery
    55. ZAMMARCHI E; CALZOLARI C; PIGNOTTI MS; PEZZATI P; LIGNANA E; CAMA A
      UNUSUAL PRESENTATION OF THE IMMOTILE CILIA SYNDROME IN 2 CHILDREN

      Acta paediatrica
    56. MORRONE A; MORREAU H; ZHOU XY; ZAMMARCHI E; DAZZO A
      INFANTILE GM1-GANGLIOSIDOSIS - A SINGLE-BASE SUBSTITUTION AT A SPLICEDONOR SITE OF THE BETA-GALACTOSIDASE GENE LEADS TO ABERRANTLY SPLICEDTRANSCRIPTS

      American journal of human genetics
    57. ZAMMARCHI E; MORRONE A; DONATI MA; PASQUINI E; FONDA C
      RE-INSTITUTION OF DIETARY-TREATMENT IN A PKU ADULT PATIENTS - CLINICAL AND MRI IMPROVEMENT AFTER ONE-YEAR

      American journal of human genetics
    58. PASQUINI E; ZAMMARCHI E; DONATI MA; BARDINI MR; MORRONE A; FILIPPI L
      EARLY DEXTROMETHORPHAN (DM) TREATMENT IN A NEWBORN WITH NONKETOTIC HYPERGLYCINEMIA (NKH)

      American journal of human genetics


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Documento generato il 27/10/20 alle ore 20:03:58