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Items: 1 to 50 of 69

1.

Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.

Leuzzi V, Carducci C, Chiarotti F, D'Agnano D, Giannini MT, Antonozzi I, Carducci C.

JIMD Rep. 2013;7:67-75. doi: 10.1007/8904_2012_144. Epub 2012 Apr 18.

2.

The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance.

Cassio A, Corbetta C, Antonozzi I, Calaciura F, Caruso U, Cesaretti G, Gastaldi R, Medda E, Mosca F, Pasquini E, Salerno MC, Stoppioni V, Tonacchera M, Weber G, Olivieri A; Italian Society for Pediatric Endocrinology and Diabetology; Italian Society for the Study of Metabolic Diseases and Neonatal Screening; Italian National Institute of Health; Italian National Coordinating Group for Congenital Hypothyroidism; Italian Thyroid Association; Italian Society of Pediatrics; Italian Society of Neonatology; Italian Society of Endocrinology; Associazione Medici Endocrinologi.

J Endocrinol Invest. 2013 Mar;36(3):195-203. doi: 10.3275/8849. Epub 2013 Feb 12. Review.

PMID:
23404215
3.

Enhanced interpretation of newborn screening results without analyte cutoff values.

Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castiñeiras Ramos DE, Cocho de Juan JA, Rueda Fernández I, Yahyaoui Macías R, Egea-Mellado JM, González-Gallego I, Delgado Pecellin C, García-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL.

Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16.

PMID:
22766634
4.

In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism.

Carducci C, Carducci C, Santagata S, Adriano E, Artiola C, Thellung S, Gatta E, Robello M, Florio T, Antonozzi I, Leuzzi V, Balestrino M.

BMC Neurosci. 2012 Apr 26;13:41. doi: 10.1186/1471-2202-13-41.

5.

A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.

Giovanniello T, Claps D, Carducci C, Carducci C, Blau N, Vigevano F, Antonozzi I, Leuzzi V.

J Child Neurol. 2012 Apr;27(4):523-5. doi: 10.1177/0883073811420717. Epub 2011 Sep 22.

PMID:
21940685
6.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra-González I, Ingham CA, Ivanova M, Jacox WB, John C, Johnson JP, Jónsson JJ, Karg E, Kasper D, Klopper B, Katakouzinos D, Khneisser I, Knoll D, Kobayashi H, Koneski R, Kozich V, Kouapei R, Kohlmueller D, Kremensky I, la Marca G, Lavochkin M, Lee SY, Lehotay DC, Lemes A, Lepage J, Lesko B, Lewis B, Lim C, Linard S, Lindner M, Lloyd-Puryear MA, Lorey F, Loukas YL, Luedtke J, Maffitt N, Magee JF, Manning A, Manos S, Marie S, Hadachi SM, Marquardt G, Martin SJ, Matern D, Mayfield Gibson SK, Mayne P, McCallister TD, McCann M, McClure J, McGill JJ, McKeever CD, McNeilly B, Morrissey MA, Moutsatsou P, Mulcahy EA, Nikoloudis D, Norgaard-Pedersen B, Oglesbee D, Oltarzewski M, Ombrone D, Ojodu J, Papakonstantinou V, Reoyo SP, Park HD, Pasquali M, Pasquini E, Patel P, Pass KA, Peterson C, Pettersen RD, Pitt JJ, Poh S, Pollak A, Porter C, Poston PA, Price RW, Queijo C, Quesada J, Randell E, Ranieri E, Raymond K, Reddic JE, Reuben A, Ricciardi C, Rinaldo P, Rivera JD, Roberts A, Rocha H, Roche G, Greenberg CR, Mellado JM, Juan-Fita MJ, Ruiz C, Ruoppolo M, Rutledge SL, Ryu E, Saban C, Sahai I, García-Blanco MI, Santiago-Borrero P, Schenone A, Schoos R, Schweitzer B, Scott P, Seashore MR, Seeterlin MA, Sesser DE, Sevier DW, Shone SM, Sinclair G, Skrinska VA, Stanley EL, Strovel ET, Jones AL, Sunny S, Takats Z, Tanyalcin T, Teofoli F, Thompson JR, Tomashitis K, Domingos MT, Torres J, Torres R, Tortorelli S, Turi S, Turner K, Tzanakos N, Valiente AG, Vallance H, Vela-Amieva M, Vilarinho L, von Döbeln U, Vincent MF, Vorster BC, Watson MS, Webster D, Weiss S, Wilcken B, Wiley V, Williams SK, Willis SA, Woontner M, Wright K, Yahyaoui R, Yamaguchi S, Yssel M, Zakowicz WM.

Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67.

PMID:
21325949
7.

Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.

Pacifico L, Carducci C, Poggiogalle E, Caravona F, Antonozzi I, Chiesa C, Maggiore G.

Clin Genet. 2010 Dec;78(6):598-600. doi: 10.1111/j.1399-0004.2010.01497.x. No abstract available.

PMID:
21044052
8.

Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Leuzzi V, Carducci CA, Carducci CL, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati MA, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau N.

Clin Genet. 2010 Mar;77(3):249-57. doi: 10.1111/j.1399-0004.2009.01306.x. Epub 2009 Jan 3.

PMID:
20059486
9.

Methylenetetrahydrofolate reductase homozygous mutation in a young boy with cerebellar infarction.

Spalice A, Del Balzo F, Perla FM, Properzi E, Carducci C, Antonozzi I, Iannetti P.

Pediatr Rep. 2009 Jun 8;1(1):e4. doi: 10.4081/pr.2009.e4.

10.

Tyrosine hydroxylase deficiency presenting with a biphasic clinical course.

Giovanniello T, Leuzzi V, Carducci C, Carducci C, Sabato ML, Artiola C, Santagata S, Pozzessere S, Antonozzi I.

Neuropediatrics. 2007 Aug;38(4):213-5.

PMID:
18058633
11.

A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.

De Rosa A, Carducci C, Antonozzi I, Giovanniello T, Xhoxhi E, Criscuolo C, Menchise V, Striano S, Filla A, De Michele G.

J Neurol. 2007 Aug;254(8):1133-4. Epub 2007 Apr 6. No abstract available.

PMID:
17410324
12.

Treatment monitoring of brain creatine deficiency syndromes: a 1H- and 31P-MR spectroscopy study.

Bianchi MC, Tosetti M, Battini R, Leuzzi V, Alessandri' MG, Carducci C, Antonozzi I, Cioni G.

AJNR Am J Neuroradiol. 2007 Mar;28(3):548-54.

13.

The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study.

Leuzzi V, Tosetti M, Montanaro D, Carducci C, Artiola C, Carducci C, Antonozzi I, Burroni M, Carnevale F, Chiarotti F, Popolizio T, Giannatempo GM, D'Alesio V, Scarabino T.

J Inherit Metab Dis. 2007 Apr;30(2):209-16. Epub 2007 Jan 23.

PMID:
17245558
14.

The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.

Leuzzi V, Carducci C, Carducci C, Chiarotti F, Artiola C, Giovanniello T, Antonozzi I.

J Inherit Metab Dis. 2006 Feb;29(1):38-46.

PMID:
16601866
15.

A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.

Leuzzi V, Carducci C, Carducci C, Matricardi M, Bianchi MC, Di Sabato ML, Artiola C, Antonozzi I.

Mol Genet Metab. 2006 Jan;87(1):88-90. Epub 2005 Nov 15.

PMID:
16293431
16.

Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry.

Carducci C, Santagata S, Leuzzi V, Carducci C, Artiola C, Giovanniello T, Battini R, Antonozzi I.

Clin Chim Acta. 2006 Feb;364(1-2):180-7. Epub 2005 Sep 28.

PMID:
16197934
17.

Executive function impairment in early-treated PKU subjects with normal mental development.

Leuzzi V, Pansini M, Sechi E, Chiarotti F, Carducci C, Levi G, Antonozzi I.

J Inherit Metab Dis. 2004;27(2):115-25.

PMID:
15159642
18.

Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome.

Leuzzi V, Carducci C, Carducci C, Cardona F, Artiola C, Antonozzi I.

Neurology. 2002 Oct 22;59(8):1241-3.

PMID:
12391354
20.

Automated high-performance liquid chromatographic method for the determination of guanidinoacetic acid in dried blood spots: a tool for early diagnosis of guanidinoacetate methyltransferase deficiency.

Carducci C, Birarelli M, Santagata P, Leuzzi V, Carducci C, Antonozzi I.

J Chromatogr B Biomed Sci Appl. 2001 May 5;755(1-2):343-8.

PMID:
11393723
21.

Two new severe mutations causing guanidinoacetate methyltransferase deficiency.

Carducci C, Leuzzi V, Carducci C, Prudente S, Mercuri L, Antonozzi I.

Mol Genet Metab. 2000 Dec;71(4):633-8.

PMID:
11136556
22.

Brain creatine depletion: guanidinoacetate methyltransferase deficiency (improving with creatine supplementation).

Leuzzi V, Bianchi MC, Tosetti M, Carducci C, Cerquiglini CA, Cioni G, Antonozzi I.

Neurology. 2000 Nov 14;55(9):1407-9.

PMID:
11087795
23.

Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria.

Leuzzi V, Bianchi MC, Tosetti M, Carducci CL, Carducci CA, Antonozzi I.

J Inherit Metab Dis. 2000 Sep;23(6):563-70.

PMID:
11032331
24.

Derangement of the dopaminergic system in phenylketonuria: study of the event-related potential (P300).

Leuzzi V, Seri S, Cerquiglini A, Carducci C, Carducci C, Antonozzi I.

J Inherit Metab Dis. 2000 Jun;23(4):317-20. No abstract available.

PMID:
10896283
25.

Automated high-performance liquid chromatographic method for the determination of homocysteine in plasma samples.

Carducci C, Birarelli M, Nola M, Antonozzi I.

J Chromatogr A. 1999 Jun 18;846(1-2):93-100.

PMID:
10420601
26.

Neuropsychological and neuroradiological (MRI) variations during phenylalanine load: protective effect of valine, leucine, and isoleucine supplementation.

Leuzzi V, Fois D, Carducci C, Antonozzi I, Trasimeni G.

J Child Neurol. 1997 Aug;12(5):338-40. No abstract available.

PMID:
9378904
27.

Clinical and subthreshold eating disorders: case detection in adolescent schoolgirls.

Vetrone G, Cuzzolaro M, Antonozzi I.

Eat Weight Disord. 1997 Mar;2(1):24-33.

PMID:
14655853
28.

Automated method for the measurement of amino acids in urine by high-performance liquid chromatography.

Carducci C, Birarelli M, Leuzzi V, Santagata G, Serafini P, Antonozzi I.

J Chromatogr A. 1996 Apr 5;729(1-2):173-80.

PMID:
9004938
29.

Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease.

Terregino C, Cardona F, Barbetti F, Antonozzi I, Carducci C.

J Inherit Metab Dis. 1996;19(2):197-200. No abstract available.

PMID:
8739964
30.

Screening of mtDNA mutations in Italian LHON pedigrees.

Carducci C, De Negri AM, Leuzzi V, Terregino C, Torella M, Pivetti Pezzi P, Antonozzi I.

J Inherit Metab Dis. 1996;19(2):127-9. No abstract available.

PMID:
8739946
31.

Biochemical, clinical and neuroradiological (MRI) correlations in late-detected PKU patients.

Leuzzi V, Trasimeni G, Gualdi GF, Antonozzi I.

J Inherit Metab Dis. 1995;18(5):624-34.

PMID:
8598645
32.

Visual, auditory, and somatosensorial evoked potentials in early and late treated adolescents with phenylketonuria.

Leuzzi V, Cardona F, Antonozzi I, Loizzo A.

J Clin Neurophysiol. 1994 Nov;11(6):602-6.

PMID:
7860722
33.

Neuroradiological (MRI) abnormalities in phenylketonuric subjects: clinical and biochemical correlations.

Leuzzi V, Gualdi GF, Fabbrizi F, Trasimeni G, Di Biasi C, Antonozzi I.

Neuropediatrics. 1993 Dec;24(6):302-6.

PMID:
8133974
34.

DNA elution and amplification by polymerase chain reaction from dried blood spots.

Carducci C, Ellul L, Antonozzi I, Pontecorvi A.

Biotechniques. 1992 Nov;13(5):735-7.

PMID:
1418975
35.

The pathobiochemistry of uremia and hyperargininemia further demonstrates a metabolic relationship between urea and guanidinosuccinic acid.

Marescau B, De Deyn PP, Qureshi IA, De Broe ME, Antonozzi I, Cederbaum SD, Cerone R, Chamoles N, Gatti R, Kang SS, et al.

Metabolism. 1992 Sep;41(9):1021-4.

PMID:
1518417
36.

Prolactin responses to domperidone in chronic schizophrenia.

Nerozzi D, Magnani A, Dastoli C, Ferri E, Capesciotti G, Antonozzi I, Frajese G, Meltzer HY.

Psychiatry Res. 1992 May;42(2):159-69.

PMID:
1631251
37.

TRH test and the continuous dopaminergic stimulation in complicated Parkinson's disease.

Lestingi L, Bonifati V, Stocchi F, Antonozzi I, Meco G.

Eur Neurol. 1992;32(2):65-9.

PMID:
1563463
38.

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.

Carducci C, Leuzzi V, Scuderi M, De Negri AM, Gabrieli CB, Antonozzi I, Pontecorvi A.

Hum Genet. 1991 Oct;87(6):725-7.

PMID:
1937476
39.
40.

The development of auditory and visual evoked potentials in early treated phenylketonuric children.

Cardona F, Leuzzi V, Antonozzi I, Benedetti P, Loizzo A.

Electroencephalogr Clin Neurophysiol. 1991 Jan-Feb;80(1):8-15.

PMID:
1703954
41.

Plasma prolactin response to domperidone in acute schizophrenia and schizophreniform illness.

Nerozzi D, Magnani A, Sforza V, Scaramucci E, Cerilli M, Moretti C, Frajese G, Antonozzi I, Meltzer HY.

Psychiatry Res. 1990 Nov;34(2):139-47.

PMID:
2149613
42.

Simultaneous high-performance liquid chromatographic determination of amino acids in a dried blood spot as a neonatal screening test.

Moretti F, Birarelli M, Carducci C, Pontecorvi A, Antonozzi I.

J Chromatogr. 1990 Jul 6;511:131-6.

PMID:
2211906
43.

Cytofluorometric analysis of lymphocyte subsets in thyroid aspirates from patients with autonomously functioning nodules.

Farsetti A, Pontecorvi A, Antonozzi I, Andreoli M, Gaetano C.

Clin Endocrinol (Oxf). 1990 Jun;32(6):729-38.

PMID:
1974483
44.

Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapy.

Marescau B, De Deyn PP, Lowenthal A, Qureshi IA, Antonozzi I, Bachmann C, Cederbaum SD, Cerone R, Chamoles N, Colombo JP, et al.

Pediatr Res. 1990 Mar;27(3):297-303.

PMID:
1690873
45.

Prolactin and growth hormone responses to growth hormone-releasing hormone in acute schizophrenia.

Nerozzi D, Magnani A, Sforza V, Scaramucci E, Cerilli M, Moretti C, Antonozzi I, Frajese G.

Neuropsychobiology. 1990;23(1):15-7.

PMID:
2280826
46.

Non-ketotic hyperglycinaemia: a new case with late onset.

Leuzzi V, Morano S, Moretti F, Fabbrizi F, Antonozzi I.

J Inherit Metab Dis. 1990;13(2):238. No abstract available.

PMID:
2116560
47.

Reduced natural killer cell activity in major depression: neuroendocrine implications.

Nerozzi D, Santoni A, Bersani G, Magnani A, Bressan A, Pasini A, Antonozzi I, Frajese G.

Psychoneuroendocrinology. 1989;14(4):295-301.

PMID:
2554356
48.

Psychological effects on parents of children with early detected phenylketonuria.

Vetrone P, Leuzzi V, Zazzara V, Antonozzi I.

J Inherit Metab Dis. 1989;12(3):345-6. No abstract available.

PMID:
2515387
49.

Rapid and sensitive method for high-performance liquid chromatographic analysis of pterins in biological fluids.

Antonozzi I, Carducci C, Vestri L, Pontecorvi A, Moretti F.

J Chromatogr. 1988 Dec 28;459:319-24.

PMID:
3243907
50.

Corticotropin-releasing factor and adrenal function in major depression.

Nerozzi D, Bersani G, Melia E, Magnani A, Antonozzi I, Frajese G.

J Endocrinol Invest. 1988 Nov;11(10):697-701.

PMID:
2852690

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