ACNP - Italian Periodicals Catalogue

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Results: 1-25 | 26-28

Results: 1-25/28

MUTATIONS IN THE CAVEOLIN-3 GENE CAUSE AUTOSOMAL-DOMINANT LIMB-GIRDLEMUSCULAR-DYSTROPHY

Authors: MINETTI C SOTGIA F BRUNO C SCARTEZZINI P BRODA P BADO M MASETTI E MAZZOCCO M EGEO A DONATI MA VOLONTE D GALBIATI F CORDONE G BRICARELLI FD LISANTI MP ZARA F

Citation: C. Minetti et al., MUTATIONS IN THE CAVEOLIN-3 GENE CAUSE AUTOSOMAL-DOMINANT LIMB-GIRDLEMUSCULAR-DYSTROPHY, Nature genetics, 18(4), 1998, pp. 365-368

ELECTROMYOGRAPHIC ALTERATIONS IN HYPERPHENYLALANINEMIA DUE TO DIHYDROPTERIDINE REDUCTASE DEFICIENCY

Authors: ZAMMARCHI E DONATI MA PASQUINI E CIANI F

Citation: E. Zammarchi et al., ELECTROMYOGRAPHIC ALTERATIONS IN HYPERPHENYLALANINEMIA DUE TO DIHYDROPTERIDINE REDUCTASE DEFICIENCY, Journal of child neurology, 12(2), 1997, pp. 137-139

X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY CAN BE DIAGNOSED FROM SKINBIOPSY OR BLOOD-SAMPLE

Authors: MORA M CARTEGNI L DIBLASI C BARRESI R BIONE S DIBARLETTA MR MORANDI L MERLINI L NIGRO V POLITANO L DONATI MA CORNELIO F COBIANCHI F TONIOLO D

Citation: M. Mora et al., X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY CAN BE DIAGNOSED FROM SKINBIOPSY OR BLOOD-SAMPLE, Annals of neurology, 42(2), 1997, pp. 249-253

ASYMPTOMATIC DYSTROPHINOPATHY

Authors: MORRONE A ZAMMARCHI E SCACHERI PC DONATI MA HOOP RC SERVIDEI S GALLUZZI G HOFFMAN EP

Citation: A. Morrone et al., ASYMPTOMATIC DYSTROPHINOPATHY, American journal of medical genetics, 69(3), 1997, pp. 261-267

NEONATAL ONSET OF HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME WITH FAVORABLE OUTCOME

Authors: ZAMMARCHI E CIANI F PASQUINI E BONOCORE G SHIH VE DONATI MA

Citation: E. Zammarchi et al., NEONATAL ONSET OF HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME WITH FAVORABLE OUTCOME, The Journal of pediatrics, 131(3), 1997, pp. 440-443

ANALYSIS OF OTC MESSENGER-RNA FROM LYMPHOCYTES LEADS TO THE IDENTIFICATION OF NEW MUTATIONS IN ITALIAN OTCD PATIENTS

Authors: GIORGI M MORRONE A DONATI MA BARDELLI T CIANI F BIASUCCI G GIOVANNINI M ZAMMARCHI E

Citation: M. Giorgi et al., ANALYSIS OF OTC MESSENGER-RNA FROM LYMPHOCYTES LEADS TO THE IDENTIFICATION OF NEW MUTATIONS IN ITALIAN OTCD PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1460-1460

IDENTIFICATION OF NEW MUTATIONS IN 6 ITALIAN PATIENTS AFFECTED BY A VARIANT FORM OF INFANTILE GM1-GANGLIOSIDOSIS WITH SEVERE CARDIOMYOPATHY

Authors: MORRONE A BARDELLI T DONATI MA GIORGI M DIROCCO R GATTI R TADDEUCCI G RICCI R DAZZO A ZAMMARCHI E

Citation: A. Morrone et al., 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, 61(4), 1997, pp. 1499-1499

IMMUNOCYTOCHEMICAL LOCALIZATION OF THE SURVIVAL MOTOR-NEURON (SMN) PROTEIN IN AMNIOCYTES AND FIBROBLASTS OF SMA PATIENTS

Authors: BRAHE C TIZIANO F PATRIZI AL DONATI MA DREYFUSS G NERI G

Citation: C. Brahe et al., IMMUNOCYTOCHEMICAL LOCALIZATION OF THE SURVIVAL MOTOR-NEURON (SMN) PROTEIN IN AMNIOCYTES AND FIBROBLASTS OF SMA PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1913-1913

THE X-LINKED GENE G4.5 IS RESPONSIBLE FOR DIFFERENT INFANTILE DILATEDCARDIOMYOPATHIES

Authors: 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

Citation: P. Dadamo et al., THE X-LINKED GENE G4.5 IS RESPONSIBLE FOR DIFFERENT INFANTILE DILATEDCARDIOMYOPATHIES, American journal of human genetics, 61(4), 1997, pp. 862-867

REDOX STATUS IN THE DIAGNOSIS OF MITOCHON DRIAL DISEASES

Authors: FILIPPI L DONATI MA NOVEMBRE E ZAMMARCHI E

Citation: L. Filippi et al., REDOX STATUS IN THE DIAGNOSIS OF MITOCHON DRIAL DISEASES, Rivista italiana di pediatria, 22(1), 1996, pp. 88-92

CRYPTOGENIC HEPATITIS MASKING THE DIAGNOSIS OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY

Authors: ZAMMARCHI E DONATI MA FILIPPI L RESTI M

Citation: E. Zammarchi et al., CRYPTOGENIC HEPATITIS MASKING THE DIAGNOSIS OF ORNITHINE TRANSCARBAMYLASE DEFICIENCY, Journal of pediatric gastroenterology and nutrition, 22(4), 1996, pp. 380-383

DIFFERENT NEUROLOGIC OUTCOMES IN 2 PATIENTS WITH NEONATAL HYPERINSULINEMIC HYPOGLYCEMIA

Authors: ZAMMARCHI E FILIPPI L FONDA C BENEDETTI PA PISTONE D DONATI MA

Citation: E. Zammarchi et al., DIFFERENT NEUROLOGIC OUTCOMES IN 2 PATIENTS WITH NEONATAL HYPERINSULINEMIC HYPOGLYCEMIA, Child's nervous system, 12(7), 1996, pp. 413-416

EARLY-INFANTILE GALACTOSIALIDOSIS - CLINICAL, BIOCHEMICAL, AND MOLECULAR OBSERVATIONS IN A NEW PATIENT

Authors: ZAMMARCHI E DONATI MA MORRONE A DONZELLI GP ZHOU XY DAZZO A

Citation: E. Zammarchi et al., EARLY-INFANTILE GALACTOSIALIDOSIS - CLINICAL, BIOCHEMICAL, AND MOLECULAR OBSERVATIONS IN A NEW PATIENT, American journal of medical genetics, 64(3), 1996, pp. 453-458

BIOCHEMICAL EVALUATION OF A PATIENT WITH A FAMILIAL FORM OF LEUCINE-SENSITIVE HYPOGLYCEMIA AND CONCOMITANT HYPERAMMONEMIA

Authors: ZAMMARCHI E FILIPPI L NOVEMBRE E DONATI MA

Citation: E. Zammarchi et al., BIOCHEMICAL EVALUATION OF A PATIENT WITH A FAMILIAL FORM OF LEUCINE-SENSITIVE HYPOGLYCEMIA AND CONCOMITANT HYPERAMMONEMIA, Metabolism, clinical and experimental, 45(8), 1996, pp. 957-960

FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY MISDIAGNOSED AS REYE-SYNDROME (VOL 34, PG 561, 1995)

Authors: ZAMMARCHI E DONATI MA CIANI F RUBETTI P PASQUINI E

Citation: E. Zammarchi et al., FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY MISDIAGNOSED AS REYE-SYNDROME (VOL 34, PG 561, 1995), Clinical pediatrics, 35(3), 1996, pp. 172-172

HYPERTRANSAMINASEMIA AND ORNITHINE TRANSC ARBAMYLASE DEFICIENCY

Authors: ZAMMARCHI E DONATI MA FILIPPI L MORRONE A REPETTO T MASCOLO G COMELLINI L

Citation: E. Zammarchi et al., HYPERTRANSAMINASEMIA AND ORNITHINE TRANSC ARBAMYLASE DEFICIENCY, Rivista italiana di pediatria, 21(1), 1995, pp. 82-87

REDOX POTENTIAL STATUS IN CHILDREN WITH PERINATAL HIV-1 INFECTION TREATED WITH ZIDOVUDINE

Authors: DEMARTINO M ZAMMARCHI E FILIPPI L DONATI MA MANNELLI F GALLI L VIERUCCI A

Citation: M. Demartino et al., REDOX POTENTIAL STATUS IN CHILDREN WITH PERINATAL HIV-1 INFECTION TREATED WITH ZIDOVUDINE, AIDS, 9(12), 1995, pp. 1381-1383

TRANSIENT NEONATAL NONKETOTIC HYPERGLYCINEMIA - A 13-YEAR FOLLOW-UP

Authors: ZAMMARCHI E DONATI MA CIANI F

Citation: E. Zammarchi et al., TRANSIENT NEONATAL NONKETOTIC HYPERGLYCINEMIA - A 13-YEAR FOLLOW-UP, Neuropediatrics, 26(6), 1995, pp. 328-330

FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY MISDIAGNOSED AS REYE SYNDROME

Authors: ZAMMARCHI E DONATI MA CIANI F RUBETTI P PASQUINI E

Citation: E. Zammarchi et al., FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY MISDIAGNOSED AS REYE SYNDROME, Clinical pediatrics, 34(10), 1995, pp. 561-564

ASYMPTOMATIC DYSTROPHINOPATHY - DETECTION BY ELEVATED AST LEVELS, ANDIDENTIFICATION OR AN INTRAGENIC DOUBLE RECOMBINATION EVENT

Authors: MORRONE A ZAMMARCHI E HOOP RC DONATI MA SERVIDEI S GALLUZZI G HOFFMAN EP

Citation: A. Morrone et al., ASYMPTOMATIC DYSTROPHINOPATHY - DETECTION BY ELEVATED AST LEVELS, ANDIDENTIFICATION OR AN INTRAGENIC DOUBLE RECOMBINATION EVENT, American journal of human genetics, 57(4), 1995, pp. 537-537

SELF-MUTILATION IN A PATIENT WITH MUCOLIPIDOSIS-III

Authors: ZAMMARCHI E SAVELLI A DONATI MA PASQUINI E

Citation: E. Zammarchi et al., SELF-MUTILATION IN A PATIENT WITH MUCOLIPIDOSIS-III, Pediatric neurology, 11(1), 1994, pp. 68-70

THE PERCUTANEOUS TRANSHEPATIC PANCREATIC CATHETERIZATION IN THE DIAGNOSIS OF HYPERINSULINISM IN A PATIENT

Authors: FILIPPI L ZAMMARCHI E DONATI MA PASQUINI E

Citation: L. Filippi et al., THE PERCUTANEOUS TRANSHEPATIC PANCREATIC CATHETERIZATION IN THE DIAGNOSIS OF HYPERINSULINISM IN A PATIENT, Rivista italiana di pediatria, 20(1), 1994, pp. 59-62

ACUTE ONSET OF X-LINKED ADRENOLEUKODYSTROPHY MIMICKING ENCEPHALITIS

Authors: ZAMMARCHI E DONATI MA TUCCI F FONDA C FANELLI F PAZZAGLIA R

Citation: E. Zammarchi et al., ACUTE ONSET OF X-LINKED ADRENOLEUKODYSTROPHY MIMICKING ENCEPHALITIS, Brain & development, 16(3), 1994, pp. 238-240

FAMILIAL INFANTILE MYASTHENIA - A NEUROMUSCULAR CAUSE OF RESPIRATORY-FAILURE

Authors: ZAMMARCHI E DONATI MA MASI S SARTI A CASTELLI S

Citation: E. Zammarchi et al., FAMILIAL INFANTILE MYASTHENIA - A NEUROMUSCULAR CAUSE OF RESPIRATORY-FAILURE, Child's nervous system, 10(5), 1994, pp. 347-349

FAILURE OF EARLY DEXTROMETHORPHAN AND SODIUM BENZOATE THERAPY IN AN INFANT WITH NONKETOTIC HYPERGLYCINEMIA

Authors: ZAMMARCHI E DONATI MA CIANI F PASQUINI E PELA I FIORINI P

Citation: E. Zammarchi et al., FAILURE OF EARLY DEXTROMETHORPHAN AND SODIUM BENZOATE THERAPY IN AN INFANT WITH NONKETOTIC HYPERGLYCINEMIA, Neuropediatrics, 25(5), 1994, pp. 274-276

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